Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.80202248C>ACA357395220PRDM8c.786C>A (p.His262Gln)
c.789C>A (p.His263Gln)
c.1629C>A (p.His543Gln)
c.1626C>A (p.His542Gln)
c.1488C>A (p.His496Gln)
c.1341C>A (p.His447Gln)
c.1203C>A (p.His401Gln)
c.1182C>A (p.His394Gln)
c.1338C>A (p.His446Gln)
c.1425C>A (p.His475Gln)
4g.80202248C>GCA357395221PRDM8c.786C>G (p.His262Gln)
c.789C>G (p.His263Gln)
c.1629C>G (p.His543Gln)
c.1626C>G (p.His542Gln)
c.1488C>G (p.His496Gln)
c.1341C>G (p.His447Gln)
c.1203C>G (p.His401Gln)
c.1182C>G (p.His394Gln)
c.1338C>G (p.His446Gln)
c.1425C>G (p.His475Gln)
4g.80202248C>TCA440226861PRDM8c.786C>T (p.His262=)
c.789C>T (p.His263=)
c.1629C>T (p.His543=)
c.1626C>T (p.His542=)
c.1488C>T (p.His496=)
c.1341C>T (p.His447=)
c.1203C>T (p.His401=)
c.1182C>T (p.His394=)
c.1338C>T (p.His446=)
c.1425C>T (p.His475=)
 gnomAD v4
4g.80202249A>CCA357395222PRDM8c.787A>C (p.Asn263His)
c.790A>C (p.Asn264His)
c.1630A>C (p.Asn544His)
c.1627A>C (p.Asn543His)
c.1489A>C (p.Asn497His)
c.1342A>C (p.Asn448His)
c.1204A>C (p.Asn402His)
c.1183A>C (p.Asn395His)
c.1339A>C (p.Asn447His)
c.1426A>C (p.Asn476His)
4g.80202249A>GCA357395223PRDM8c.787A>G (p.Asn263Asp)
c.790A>G (p.Asn264Asp)
c.1630A>G (p.Asn544Asp)
c.1627A>G (p.Asn543Asp)
c.1489A>G (p.Asn497Asp)
c.1342A>G (p.Asn448Asp)
c.1204A>G (p.Asn402Asp)
c.1183A>G (p.Asn395Asp)
c.1339A>G (p.Asn447Asp)
c.1426A>G (p.Asn476Asp)
4g.80202249A>TCA357395224PRDM8c.787A>T (p.Asn263Tyr)
c.790A>T (p.Asn264Tyr)
c.1630A>T (p.Asn544Tyr)
c.1627A>T (p.Asn543Tyr)
c.1489A>T (p.Asn497Tyr)
c.1342A>T (p.Asn448Tyr)
c.1204A>T (p.Asn402Tyr)
c.1183A>T (p.Asn395Tyr)
c.1339A>T (p.Asn447Tyr)
c.1426A>T (p.Asn476Tyr)
4g.80202250A>CCA357395225PRDM8c.788A>C (p.Asn263Thr)
c.791A>C (p.Asn264Thr)
c.1631A>C (p.Asn544Thr)
c.1628A>C (p.Asn543Thr)
c.1490A>C (p.Asn497Thr)
c.1343A>C (p.Asn448Thr)
c.1205A>C (p.Asn402Thr)
c.1184A>C (p.Asn395Thr)
c.1340A>C (p.Asn447Thr)
c.1427A>C (p.Asn476Thr)
4g.80202250A>GCA357395226PRDM8c.788A>G (p.Asn263Ser)
c.791A>G (p.Asn264Ser)
c.1631A>G (p.Asn544Ser)
c.1628A>G (p.Asn543Ser)
c.1490A>G (p.Asn497Ser)
c.1343A>G (p.Asn448Ser)
c.1205A>G (p.Asn402Ser)
c.1184A>G (p.Asn395Ser)
c.1340A>G (p.Asn447Ser)
c.1427A>G (p.Asn476Ser)
4g.80202250A>TCA357395227PRDM8c.788A>T (p.Asn263Ile)
c.791A>T (p.Asn264Ile)
c.1631A>T (p.Asn544Ile)
c.1628A>T (p.Asn543Ile)
c.1490A>T (p.Asn497Ile)
c.1343A>T (p.Asn448Ile)
c.1205A>T (p.Asn402Ile)
c.1184A>T (p.Asn395Ile)
c.1340A>T (p.Asn447Ile)
c.1427A>T (p.Asn476Ile)
4g.80202251C>ACA357395228PRDM8c.789C>A (p.Asn263Lys)
c.792C>A (p.Asn264Lys)
c.1632C>A (p.Asn544Lys)
c.1629C>A (p.Asn543Lys)
c.1491C>A (p.Asn497Lys)
c.1344C>A (p.Asn448Lys)
c.1206C>A (p.Asn402Lys)
c.1185C>A (p.Asn395Lys)
c.1341C>A (p.Asn447Lys)
c.1428C>A (p.Asn476Lys)
4g.80202251C=CA1471292658PRDM8c.789C= (p.Asn263=)
c.792C= (p.Asn264=)
c.1632C= (p.Asn544=)
c.1629C= (p.Asn543=)
c.1491C= (p.Asn497=)
c.1344C= (p.Asn448=)
c.1206C= (p.Asn402=)
c.1185C= (p.Asn395=)
c.1341C= (p.Asn447=)
c.1428C= (p.Asn476=)
4g.80202251C>GCA357395229PRDM8c.789C>G (p.Asn263Lys)
c.792C>G (p.Asn264Lys)
c.1632C>G (p.Asn544Lys)
c.1629C>G (p.Asn543Lys)
c.1491C>G (p.Asn497Lys)
c.1344C>G (p.Asn448Lys)
c.1206C>G (p.Asn402Lys)
c.1185C>G (p.Asn395Lys)
c.1341C>G (p.Asn447Lys)
c.1428C>G (p.Asn476Lys)
4g.80202251C>TCA440226868PRDM8c.789C>T (p.Asn263=)
c.792C>T (p.Asn264=)
c.1632C>T (p.Asn544=)
c.1629C>T (p.Asn543=)
c.1491C>T (p.Asn497=)
c.1344C>T (p.Asn448=)
c.1206C>T (p.Asn402=)
c.1185C>T (p.Asn395=)
c.1341C>T (p.Asn447=)
c.1428C>T (p.Asn476=)
 dbSNP gnomAD v3 gnomAD v4
4g.80202252C>ACA357395230PRDM8c.790C>A (p.Leu264Met)
c.793C>A (p.Leu265Met)
c.1633C>A (p.Leu545Met)
c.1630C>A (p.Leu544Met)
c.1492C>A (p.Leu498Met)
c.1345C>A (p.Leu449Met)
c.1207C>A (p.Leu403Met)
c.1186C>A (p.Leu396Met)
c.1342C>A (p.Leu448Met)
c.1429C>A (p.Leu477Met)
4g.80202252C>GCA357395231PRDM8c.790C>G (p.Leu264Val)
c.793C>G (p.Leu265Val)
c.1633C>G (p.Leu545Val)
c.1630C>G (p.Leu544Val)
c.1492C>G (p.Leu498Val)
c.1345C>G (p.Leu449Val)
c.1207C>G (p.Leu403Val)
c.1186C>G (p.Leu396Val)
c.1342C>G (p.Leu448Val)
c.1429C>G (p.Leu477Val)
4g.80202252C>TCA440226873PRDM8c.790C>T (p.Leu264=)
c.793C>T (p.Leu265=)
c.1633C>T (p.Leu545=)
c.1630C>T (p.Leu544=)
c.1492C>T (p.Leu498=)
c.1345C>T (p.Leu449=)
c.1207C>T (p.Leu403=)
c.1186C>T (p.Leu396=)
c.1342C>T (p.Leu448=)
c.1429C>T (p.Leu477=)
4g.80202253T>ACA357395232PRDM8c.791T>A (p.Leu264Gln)
c.794T>A (p.Leu265Gln)
c.1634T>A (p.Leu545Gln)
c.1631T>A (p.Leu544Gln)
c.1493T>A (p.Leu498Gln)
c.1346T>A (p.Leu449Gln)
c.1208T>A (p.Leu403Gln)
c.1187T>A (p.Leu396Gln)
c.1343T>A (p.Leu448Gln)
c.1430T>A (p.Leu477Gln)
4g.80202253T>CCA357395233PRDM8c.791T>C (p.Leu264Pro)
c.794T>C (p.Leu265Pro)
c.1634T>C (p.Leu545Pro)
c.1631T>C (p.Leu544Pro)
c.1493T>C (p.Leu498Pro)
c.1346T>C (p.Leu449Pro)
c.1208T>C (p.Leu403Pro)
c.1187T>C (p.Leu396Pro)
c.1343T>C (p.Leu448Pro)
c.1430T>C (p.Leu477Pro)
 gnomAD v4
4g.80202253T>GCA357395234PRDM8c.791T>G (p.Leu264Arg)
c.794T>G (p.Leu265Arg)
c.1634T>G (p.Leu545Arg)
c.1631T>G (p.Leu544Arg)
c.1493T>G (p.Leu498Arg)
c.1346T>G (p.Leu449Arg)
c.1208T>G (p.Leu403Arg)
c.1187T>G (p.Leu396Arg)
c.1343T>G (p.Leu448Arg)
c.1430T>G (p.Leu477Arg)
4g.80202254G>ACA440226877PRDM8c.792G>A (p.Leu264=)
c.795G>A (p.Leu265=)
c.1635G>A (p.Leu545=)
c.1632G>A (p.Leu544=)
c.1494G>A (p.Leu498=)
c.1347G>A (p.Leu449=)
c.1209G>A (p.Leu403=)
c.1188G>A (p.Leu396=)
c.1344G>A (p.Leu448=)
c.1431G>A (p.Leu477=)
4g.80202254G>CCA440226880PRDM8c.792G>C (p.Leu264=)
c.795G>C (p.Leu265=)
c.1635G>C (p.Leu545=)
c.1632G>C (p.Leu544=)
c.1494G>C (p.Leu498=)
c.1347G>C (p.Leu449=)
c.1209G>C (p.Leu403=)
c.1188G>C (p.Leu396=)
c.1344G>C (p.Leu448=)
c.1431G>C (p.Leu477=)
4g.80202254G>TCA440226878PRDM8c.792G>T (p.Leu264=)
c.795G>T (p.Leu265=)
c.1635G>T (p.Leu545=)
c.1632G>T (p.Leu544=)
c.1494G>T (p.Leu498=)
c.1347G>T (p.Leu449=)
c.1209G>T (p.Leu403=)
c.1188G>T (p.Leu396=)
c.1344G>T (p.Leu448=)
c.1431G>T (p.Leu477=)
 gnomAD v4
4g.80202255G>ACA357395236PRDM8c.793G>A (p.Ala265Thr)
c.796G>A (p.Ala266Thr)
c.1636G>A (p.Ala546Thr)
c.1633G>A (p.Ala545Thr)
c.1495G>A (p.Ala499Thr)
c.1348G>A (p.Ala450Thr)
c.1210G>A (p.Ala404Thr)
c.1189G>A (p.Ala397Thr)
c.1345G>A (p.Ala449Thr)
c.1432G>A (p.Ala478Thr)
4g.80202255G>CCA357395237PRDM8c.793G>C (p.Ala265Pro)
c.796G>C (p.Ala266Pro)
c.1636G>C (p.Ala546Pro)
c.1633G>C (p.Ala545Pro)
c.1495G>C (p.Ala499Pro)
c.1348G>C (p.Ala450Pro)
c.1210G>C (p.Ala404Pro)
c.1189G>C (p.Ala397Pro)
c.1345G>C (p.Ala449Pro)
c.1432G>C (p.Ala478Pro)
4g.80202255G>TCA357395235PRDM8c.793G>T (p.Ala265Ser)
c.796G>T (p.Ala266Ser)
c.1636G>T (p.Ala546Ser)
c.1633G>T (p.Ala545Ser)
c.1495G>T (p.Ala499Ser)
c.1348G>T (p.Ala450Ser)
c.1210G>T (p.Ala404Ser)
c.1189G>T (p.Ala397Ser)
c.1345G>T (p.Ala449Ser)
c.1432G>T (p.Ala478Ser)
4g.80202256C>ACA357395239PRDM8c.794C>A (p.Ala265Asp)
c.797C>A (p.Ala266Asp)
c.1637C>A (p.Ala546Asp)
c.1634C>A (p.Ala545Asp)
c.1496C>A (p.Ala499Asp)
c.1349C>A (p.Ala450Asp)
c.1211C>A (p.Ala404Asp)
c.1190C>A (p.Ala397Asp)
c.1346C>A (p.Ala449Asp)
c.1433C>A (p.Ala478Asp)
4g.80202256C>GCA357395238PRDM8c.794C>G (p.Ala265Gly)
c.797C>G (p.Ala266Gly)
c.1637C>G (p.Ala546Gly)
c.1634C>G (p.Ala545Gly)
c.1496C>G (p.Ala499Gly)
c.1349C>G (p.Ala450Gly)
c.1211C>G (p.Ala404Gly)
c.1190C>G (p.Ala397Gly)
c.1346C>G (p.Ala449Gly)
c.1433C>G (p.Ala478Gly)
4g.80202256C>TCA357395240PRDM8c.794C>T (p.Ala265Val)
c.797C>T (p.Ala266Val)
c.1637C>T (p.Ala546Val)
c.1634C>T (p.Ala545Val)
c.1496C>T (p.Ala499Val)
c.1349C>T (p.Ala450Val)
c.1211C>T (p.Ala404Val)
c.1190C>T (p.Ala397Val)
c.1346C>T (p.Ala449Val)
c.1433C>T (p.Ala478Val)
4g.80202257C>ACA440226889PRDM8c.795C>A (p.Ala265=)
c.798C>A (p.Ala266=)
c.1638C>A (p.Ala546=)
c.1635C>A (p.Ala545=)
c.1497C>A (p.Ala499=)
c.1350C>A (p.Ala450=)
c.1212C>A (p.Ala404=)
c.1191C>A (p.Ala397=)
c.1347C>A (p.Ala449=)
c.1434C>A (p.Ala478=)
4g.80202257C=CA1471292661PRDM8c.795C= (p.Ala265=)
c.798C= (p.Ala266=)
c.1638C= (p.Ala546=)
c.1635C= (p.Ala545=)
c.1497C= (p.Ala499=)
c.1350C= (p.Ala450=)
c.1212C= (p.Ala404=)
c.1191C= (p.Ala397=)
c.1347C= (p.Ala449=)
c.1434C= (p.Ala478=)
4g.80202257C>GCA2982325PRDM8c.795C>G (p.Ala265=)
c.798C>G (p.Ala266=)
c.1638C>G (p.Ala546=)
c.1635C>G (p.Ala545=)
c.1497C>G (p.Ala499=)
c.1350C>G (p.Ala450=)
c.1212C>G (p.Ala404=)
c.1191C>G (p.Ala397=)
c.1347C>G (p.Ala449=)
c.1434C>G (p.Ala478=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202257C>TCA2982326PRDM8c.795C>T (p.Ala265=)
c.798C>T (p.Ala266=)
c.1638C>T (p.Ala546=)
c.1635C>T (p.Ala545=)
c.1497C>T (p.Ala499=)
c.1350C>T (p.Ala450=)
c.1212C>T (p.Ala404=)
c.1191C>T (p.Ala397=)
c.1347C>T (p.Ala449=)
c.1434C>T (p.Ala478=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202258A>CCA440226891PRDM8c.796A>C (p.Arg266=)
c.799A>C (p.Arg267=)
c.1639A>C (p.Arg547=)
c.1636A>C (p.Arg546=)
c.1498A>C (p.Arg500=)
c.1351A>C (p.Arg451=)
c.1213A>C (p.Arg405=)
c.1192A>C (p.Arg398=)
c.1348A>C (p.Arg450=)
c.1435A>C (p.Arg479=)
 gnomAD v4
4g.80202258A>GCA357395241PRDM8c.796A>G (p.Arg266Gly)
c.799A>G (p.Arg267Gly)
c.1639A>G (p.Arg547Gly)
c.1636A>G (p.Arg546Gly)
c.1498A>G (p.Arg500Gly)
c.1351A>G (p.Arg451Gly)
c.1213A>G (p.Arg405Gly)
c.1192A>G (p.Arg398Gly)
c.1348A>G (p.Arg450Gly)
c.1435A>G (p.Arg479Gly)
4g.80202258A>TCA357395242PRDM8c.796A>T (p.Arg266Trp)
c.799A>T (p.Arg267Trp)
c.1639A>T (p.Arg547Trp)
c.1636A>T (p.Arg546Trp)
c.1498A>T (p.Arg500Trp)
c.1351A>T (p.Arg451Trp)
c.1213A>T (p.Arg405Trp)
c.1192A>T (p.Arg398Trp)
c.1348A>T (p.Arg450Trp)
c.1435A>T (p.Arg479Trp)
 ClinVar
4g.80202259G>ACA357395243PRDM8c.797G>A (p.Arg266Lys)
c.800G>A (p.Arg267Lys)
c.1640G>A (p.Arg547Lys)
c.1637G>A (p.Arg546Lys)
c.1499G>A (p.Arg500Lys)
c.1352G>A (p.Arg451Lys)
c.1214G>A (p.Arg405Lys)
c.1193G>A (p.Arg398Lys)
c.1349G>A (p.Arg450Lys)
c.1436G>A (p.Arg479Lys)
4g.80202259G>CCA357395244PRDM8c.797G>C (p.Arg266Thr)
c.800G>C (p.Arg267Thr)
c.1640G>C (p.Arg547Thr)
c.1637G>C (p.Arg546Thr)
c.1499G>C (p.Arg500Thr)
c.1352G>C (p.Arg451Thr)
c.1214G>C (p.Arg405Thr)
c.1193G>C (p.Arg398Thr)
c.1349G>C (p.Arg450Thr)
c.1436G>C (p.Arg479Thr)
 dbSNP gnomAD v4
4g.80202259G=CA1471292668PRDM8c.797G= (p.Arg266=)
c.800G= (p.Arg267=)
c.1640G= (p.Arg547=)
c.1637G= (p.Arg546=)
c.1499G= (p.Arg500=)
c.1352G= (p.Arg451=)
c.1214G= (p.Arg405=)
c.1193G= (p.Arg398=)
c.1349G= (p.Arg450=)
c.1436G= (p.Arg479=)
4g.80202259G>TCA357395245PRDM8c.797G>T (p.Arg266Met)
c.800G>T (p.Arg267Met)
c.1640G>T (p.Arg547Met)
c.1637G>T (p.Arg546Met)
c.1499G>T (p.Arg500Met)
c.1352G>T (p.Arg451Met)
c.1214G>T (p.Arg405Met)
c.1193G>T (p.Arg398Met)
c.1349G>T (p.Arg450Met)
c.1436G>T (p.Arg479Met)
4g.80202260G>ACA440226898PRDM8c.798G>A (p.Arg266=)
c.801G>A (p.Arg267=)
c.1641G>A (p.Arg547=)
c.1638G>A (p.Arg546=)
c.1500G>A (p.Arg500=)
c.1353G>A (p.Arg451=)
c.1215G>A (p.Arg405=)
c.1194G>A (p.Arg398=)
c.1350G>A (p.Arg450=)
c.1437G>A (p.Arg479=)
 ClinVar dbSNP gnomAD v4
4g.80202260G>CCA357395246PRDM8c.798G>C (p.Arg266Ser)
c.801G>C (p.Arg267Ser)
c.1641G>C (p.Arg547Ser)
c.1638G>C (p.Arg546Ser)
c.1500G>C (p.Arg500Ser)
c.1353G>C (p.Arg451Ser)
c.1215G>C (p.Arg405Ser)
c.1194G>C (p.Arg398Ser)
c.1350G>C (p.Arg450Ser)
c.1437G>C (p.Arg479Ser)
4g.80202260G>TCA357395247PRDM8c.798G>T (p.Arg266Ser)
c.801G>T (p.Arg267Ser)
c.1641G>T (p.Arg547Ser)
c.1638G>T (p.Arg546Ser)
c.1500G>T (p.Arg500Ser)
c.1353G>T (p.Arg451Ser)
c.1215G>T (p.Arg405Ser)
c.1194G>T (p.Arg398Ser)
c.1350G>T (p.Arg450Ser)
c.1437G>T (p.Arg479Ser)
4g.80202261G>ACA357395248PRDM8c.799G>A (p.Glu267Lys)
c.802G>A (p.Glu268Lys)
c.1642G>A (p.Glu548Lys)
c.1639G>A (p.Glu547Lys)
c.1501G>A (p.Glu501Lys)
c.1354G>A (p.Glu452Lys)
c.1216G>A (p.Glu406Lys)
c.1195G>A (p.Glu399Lys)
c.1351G>A (p.Glu451Lys)
c.1438G>A (p.Glu480Lys)
4g.80202261G>CCA357395249PRDM8c.799G>C (p.Glu267Gln)
c.802G>C (p.Glu268Gln)
c.1642G>C (p.Glu548Gln)
c.1639G>C (p.Glu547Gln)
c.1501G>C (p.Glu501Gln)
c.1354G>C (p.Glu452Gln)
c.1216G>C (p.Glu406Gln)
c.1195G>C (p.Glu399Gln)
c.1351G>C (p.Glu451Gln)
c.1438G>C (p.Glu480Gln)
 gnomAD v4
4g.80202261G>TCA357395250PRDM8c.799G>T (p.Glu267Ter)
c.802G>T (p.Glu268Ter)
c.1642G>T (p.Glu548Ter)
c.1639G>T (p.Glu547Ter)
c.1501G>T (p.Glu501Ter)
c.1354G>T (p.Glu452Ter)
c.1216G>T (p.Glu406Ter)
c.1195G>T (p.Glu399Ter)
c.1351G>T (p.Glu451Ter)
c.1438G>T (p.Glu480Ter)
4g.80202262A>CCA357395251PRDM8c.800A>C (p.Glu267Ala)
c.803A>C (p.Glu268Ala)
c.1643A>C (p.Glu548Ala)
c.1640A>C (p.Glu547Ala)
c.1502A>C (p.Glu501Ala)
c.1355A>C (p.Glu452Ala)
c.1217A>C (p.Glu406Ala)
c.1196A>C (p.Glu399Ala)
c.1352A>C (p.Glu451Ala)
c.1439A>C (p.Glu480Ala)
4g.80202262A>GCA357395252PRDM8c.800A>G (p.Glu267Gly)
c.803A>G (p.Glu268Gly)
c.1643A>G (p.Glu548Gly)
c.1640A>G (p.Glu547Gly)
c.1502A>G (p.Glu501Gly)
c.1355A>G (p.Glu452Gly)
c.1217A>G (p.Glu406Gly)
c.1196A>G (p.Glu399Gly)
c.1352A>G (p.Glu451Gly)
c.1439A>G (p.Glu480Gly)
4g.80202262A>TCA357395253PRDM8c.800A>T (p.Glu267Val)
c.803A>T (p.Glu268Val)
c.1643A>T (p.Glu548Val)
c.1640A>T (p.Glu547Val)
c.1502A>T (p.Glu501Val)
c.1355A>T (p.Glu452Val)
c.1217A>T (p.Glu406Val)
c.1196A>T (p.Glu399Val)
c.1352A>T (p.Glu451Val)
c.1439A>T (p.Glu480Val)
4g.80202263G>ACA440226913PRDM8c.801G>A (p.Glu267=)
c.804G>A (p.Glu268=)
c.1644G>A (p.Glu548=)
c.1641G>A (p.Glu547=)
c.1503G>A (p.Glu501=)
c.1356G>A (p.Glu452=)
c.1218G>A (p.Glu406=)
c.1197G>A (p.Glu399=)
c.1353G>A (p.Glu451=)
c.1440G>A (p.Glu480=)
 dbSNP gnomAD v2 gnomAD v4
4g.80202263G>CCA100000302PRDM8c.801G>C (p.Glu267Asp)
c.804G>C (p.Glu268Asp)
c.1644G>C (p.Glu548Asp)
c.1641G>C (p.Glu547Asp)
c.1503G>C (p.Glu501Asp)
c.1356G>C (p.Glu452Asp)
c.1218G>C (p.Glu406Asp)
c.1197G>C (p.Glu399Asp)
c.1353G>C (p.Glu451Asp)
c.1440G>C (p.Glu480Asp)
 dbSNP
4g.80202263G=CA1471292670PRDM8c.801G= (p.Glu267=)
c.804G= (p.Glu268=)
c.1644G= (p.Glu548=)
c.1641G= (p.Glu547=)
c.1503G= (p.Glu501=)
c.1356G= (p.Glu452=)
c.1218G= (p.Glu406=)
c.1197G= (p.Glu399=)
c.1353G= (p.Glu451=)
c.1440G= (p.Glu480=)
4g.80202263G>TCA357395254PRDM8c.801G>T (p.Glu267Asp)
c.804G>T (p.Glu268Asp)
c.1644G>T (p.Glu548Asp)
c.1641G>T (p.Glu547Asp)
c.1503G>T (p.Glu501Asp)
c.1356G>T (p.Glu452Asp)
c.1218G>T (p.Glu406Asp)
c.1197G>T (p.Glu399Asp)
c.1353G>T (p.Glu451Asp)
c.1440G>T (p.Glu480Asp)
4g.80202264C>ACA357395255PRDM8c.802C>A (p.Leu268Met)
c.805C>A (p.Leu269Met)
c.1645C>A (p.Leu549Met)
c.1642C>A (p.Leu548Met)
c.1504C>A (p.Leu502Met)
c.1357C>A (p.Leu453Met)
c.1219C>A (p.Leu407Met)
c.1198C>A (p.Leu400Met)
c.1354C>A (p.Leu452Met)
c.1441C>A (p.Leu481Met)
 gnomAD v4
4g.80202264C=CA1471292674PRDM8c.802C= (p.Leu268=)
c.805C= (p.Leu269=)
c.1645C= (p.Leu549=)
c.1642C= (p.Leu548=)
c.1504C= (p.Leu502=)
c.1357C= (p.Leu453=)
c.1219C= (p.Leu407=)
c.1198C= (p.Leu400=)
c.1354C= (p.Leu452=)
c.1441C= (p.Leu481=)
4g.80202264C>GCA2982327PRDM8c.802C>G (p.Leu268Val)
c.805C>G (p.Leu269Val)
c.1645C>G (p.Leu549Val)
c.1642C>G (p.Leu548Val)
c.1504C>G (p.Leu502Val)
c.1357C>G (p.Leu453Val)
c.1219C>G (p.Leu407Val)
c.1198C>G (p.Leu400Val)
c.1354C>G (p.Leu452Val)
c.1441C>G (p.Leu481Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202264C>TCA440226914PRDM8c.802C>T (p.Leu268=)
c.805C>T (p.Leu269=)
c.1645C>T (p.Leu549=)
c.1642C>T (p.Leu548=)
c.1504C>T (p.Leu502=)
c.1357C>T (p.Leu453=)
c.1219C>T (p.Leu407=)
c.1198C>T (p.Leu400=)
c.1354C>T (p.Leu452=)
c.1441C>T (p.Leu481=)
4g.80202265T>ACA357395256PRDM8c.803T>A (p.Leu268Gln)
c.806T>A (p.Leu269Gln)
c.1646T>A (p.Leu549Gln)
c.1643T>A (p.Leu548Gln)
c.1505T>A (p.Leu502Gln)
c.1358T>A (p.Leu453Gln)
c.1220T>A (p.Leu407Gln)
c.1199T>A (p.Leu400Gln)
c.1355T>A (p.Leu452Gln)
c.1442T>A (p.Leu481Gln)
4g.80202265T>CCA357395257PRDM8c.803T>C (p.Leu268Pro)
c.806T>C (p.Leu269Pro)
c.1646T>C (p.Leu549Pro)
c.1643T>C (p.Leu548Pro)
c.1505T>C (p.Leu502Pro)
c.1358T>C (p.Leu453Pro)
c.1220T>C (p.Leu407Pro)
c.1199T>C (p.Leu400Pro)
c.1355T>C (p.Leu452Pro)
c.1442T>C (p.Leu481Pro)
4g.80202265T>GCA357395258PRDM8c.803T>G (p.Leu268Arg)
c.806T>G (p.Leu269Arg)
c.1646T>G (p.Leu549Arg)
c.1643T>G (p.Leu548Arg)
c.1505T>G (p.Leu502Arg)
c.1358T>G (p.Leu453Arg)
c.1220T>G (p.Leu407Arg)
c.1199T>G (p.Leu400Arg)
c.1355T>G (p.Leu452Arg)
c.1442T>G (p.Leu481Arg)
4g.80202266G>ACA440226924PRDM8c.804G>A (p.Leu268=)
c.807G>A (p.Leu269=)
c.1647G>A (p.Leu549=)
c.1644G>A (p.Leu548=)
c.1506G>A (p.Leu502=)
c.1359G>A (p.Leu453=)
c.1221G>A (p.Leu407=)
c.1200G>A (p.Leu400=)
c.1356G>A (p.Leu452=)
c.1443G>A (p.Leu481=)
 ClinVar dbSNP
4g.80202266G>CCA440226925PRDM8c.804G>C (p.Leu268=)
c.807G>C (p.Leu269=)
c.1647G>C (p.Leu549=)
c.1644G>C (p.Leu548=)
c.1506G>C (p.Leu502=)
c.1359G>C (p.Leu453=)
c.1221G>C (p.Leu407=)
c.1200G>C (p.Leu400=)
c.1356G>C (p.Leu452=)
c.1443G>C (p.Leu481=)
4g.80202266G=CA1471292683PRDM8c.804G= (p.Leu268=)
c.807G= (p.Leu269=)
c.1647G= (p.Leu549=)
c.1644G= (p.Leu548=)
c.1506G= (p.Leu502=)
c.1359G= (p.Leu453=)
c.1221G= (p.Leu407=)
c.1200G= (p.Leu400=)
c.1356G= (p.Leu452=)
c.1443G= (p.Leu481=)
4g.80202266G>TCA440226931PRDM8c.804G>T (p.Leu268=)
c.807G>T (p.Leu269=)
c.1647G>T (p.Leu549=)
c.1644G>T (p.Leu548=)
c.1506G>T (p.Leu502=)
c.1359G>T (p.Leu453=)
c.1221G>T (p.Leu407=)
c.1200G>T (p.Leu400=)
c.1356G>T (p.Leu452=)
c.1443G>T (p.Leu481=)
 dbSNP gnomAD v4
4g.80202266_80202284dupCA2541268812PRDM8c.804_822dup (p.Ser275GlyfsTer19)
c.807_825dup (p.Ser276GlyfsTer19)
c.1647_1665dup (p.Ser556GlyfsTer19)
c.1644_1662dup (p.Ser555GlyfsTer19)
c.1506_1524dup (p.Ser509GlyfsTer19)
c.1359_1377dup (p.Ser460GlyfsTer19)
c.1221_1239dup (p.Ser414GlyfsTer19)
c.1200_1218dup (p.Ser407GlyfsTer19)
c.1356_1374dup (p.Ser459GlyfsTer19)
c.1443_1461dup (p.Ser488GlyfsTer19)
4g.80202267G>ACA357395259PRDM8c.805G>A (p.Glu269Lys)
c.808G>A (p.Glu270Lys)
c.1648G>A (p.Glu550Lys)
c.1645G>A (p.Glu549Lys)
c.1507G>A (p.Glu503Lys)
c.1360G>A (p.Glu454Lys)
c.1222G>A (p.Glu408Lys)
c.1201G>A (p.Glu401Lys)
c.1357G>A (p.Glu453Lys)
c.1444G>A (p.Glu482Lys)
4g.80202267G>CCA357395260PRDM8c.805G>C (p.Glu269Gln)
c.808G>C (p.Glu270Gln)
c.1648G>C (p.Glu550Gln)
c.1645G>C (p.Glu549Gln)
c.1507G>C (p.Glu503Gln)
c.1360G>C (p.Glu454Gln)
c.1222G>C (p.Glu408Gln)
c.1201G>C (p.Glu401Gln)
c.1357G>C (p.Glu453Gln)
c.1444G>C (p.Glu482Gln)
4g.80202267G>TCA357395261PRDM8c.805G>T (p.Glu269Ter)
c.808G>T (p.Glu270Ter)
c.1648G>T (p.Glu550Ter)
c.1645G>T (p.Glu549Ter)
c.1507G>T (p.Glu503Ter)
c.1360G>T (p.Glu454Ter)
c.1222G>T (p.Glu408Ter)
c.1201G>T (p.Glu401Ter)
c.1357G>T (p.Glu453Ter)
c.1444G>T (p.Glu482Ter)
4g.80202268A>CCA357395262PRDM8c.806A>C (p.Glu269Ala)
c.809A>C (p.Glu270Ala)
c.1649A>C (p.Glu550Ala)
c.1646A>C (p.Glu549Ala)
c.1508A>C (p.Glu503Ala)
c.1361A>C (p.Glu454Ala)
c.1223A>C (p.Glu408Ala)
c.1202A>C (p.Glu401Ala)
c.1358A>C (p.Glu453Ala)
c.1445A>C (p.Glu482Ala)
4g.80202268A>GCA357395263PRDM8c.806A>G (p.Glu269Gly)
c.809A>G (p.Glu270Gly)
c.1649A>G (p.Glu550Gly)
c.1646A>G (p.Glu549Gly)
c.1508A>G (p.Glu503Gly)
c.1361A>G (p.Glu454Gly)
c.1223A>G (p.Glu408Gly)
c.1202A>G (p.Glu401Gly)
c.1358A>G (p.Glu453Gly)
c.1445A>G (p.Glu482Gly)
4g.80202268A>TCA357395264PRDM8c.806A>T (p.Glu269Val)
c.809A>T (p.Glu270Val)
c.1649A>T (p.Glu550Val)
c.1646A>T (p.Glu549Val)
c.1508A>T (p.Glu503Val)
c.1361A>T (p.Glu454Val)
c.1223A>T (p.Glu408Val)
c.1202A>T (p.Glu401Val)
c.1358A>T (p.Glu453Val)
c.1445A>T (p.Glu482Val)
4g.80202269A=CA1471292692PRDM8c.807A= (p.Glu269=)
c.810A= (p.Glu270=)
c.1650A= (p.Glu550=)
c.1647A= (p.Glu549=)
c.1509A= (p.Glu503=)
c.1362A= (p.Glu454=)
c.1224A= (p.Glu408=)
c.1203A= (p.Glu401=)
c.1359A= (p.Glu453=)
c.1446A= (p.Glu482=)
4g.80202269A>CCA357395265PRDM8c.807A>C (p.Glu269Asp)
c.810A>C (p.Glu270Asp)
c.1650A>C (p.Glu550Asp)
c.1647A>C (p.Glu549Asp)
c.1509A>C (p.Glu503Asp)
c.1362A>C (p.Glu454Asp)
c.1224A>C (p.Glu408Asp)
c.1203A>C (p.Glu401Asp)
c.1359A>C (p.Glu453Asp)
c.1446A>C (p.Glu482Asp)
4g.80202269A>GCA440226951PRDM8c.807A>G (p.Glu269=)
c.810A>G (p.Glu270=)
c.1650A>G (p.Glu550=)
c.1647A>G (p.Glu549=)
c.1509A>G (p.Glu503=)
c.1362A>G (p.Glu454=)
c.1224A>G (p.Glu408=)
c.1203A>G (p.Glu401=)
c.1359A>G (p.Glu453=)
c.1446A>G (p.Glu482=)
 dbSNP
4g.80202269A>TCA357395266PRDM8c.807A>T (p.Glu269Asp)
c.810A>T (p.Glu270Asp)
c.1650A>T (p.Glu550Asp)
c.1647A>T (p.Glu549Asp)
c.1509A>T (p.Glu503Asp)
c.1362A>T (p.Glu454Asp)
c.1224A>T (p.Glu408Asp)
c.1203A>T (p.Glu401Asp)
c.1359A>T (p.Glu453Asp)
c.1446A>T (p.Glu482Asp)
4g.80202270A>CCA357395269PRDM8c.808A>C (p.Asn270His)
c.811A>C (p.Asn271His)
c.1651A>C (p.Asn551His)
c.1648A>C (p.Asn550His)
c.1510A>C (p.Asn504His)
c.1363A>C (p.Asn455His)
c.1225A>C (p.Asn409His)
c.1204A>C (p.Asn402His)
c.1360A>C (p.Asn454His)
c.1447A>C (p.Asn483His)
 gnomAD v4
4g.80202270A>GCA357395267PRDM8c.808A>G (p.Asn270Asp)
c.811A>G (p.Asn271Asp)
c.1651A>G (p.Asn551Asp)
c.1648A>G (p.Asn550Asp)
c.1510A>G (p.Asn504Asp)
c.1363A>G (p.Asn455Asp)
c.1225A>G (p.Asn409Asp)
c.1204A>G (p.Asn402Asp)
c.1360A>G (p.Asn454Asp)
c.1447A>G (p.Asn483Asp)
 gnomAD v4
4g.80202270A>TCA357395268PRDM8c.808A>T (p.Asn270Tyr)
c.811A>T (p.Asn271Tyr)
c.1651A>T (p.Asn551Tyr)
c.1648A>T (p.Asn550Tyr)
c.1510A>T (p.Asn504Tyr)
c.1363A>T (p.Asn455Tyr)
c.1225A>T (p.Asn409Tyr)
c.1204A>T (p.Asn402Tyr)
c.1360A>T (p.Asn454Tyr)
c.1447A>T (p.Asn483Tyr)
4g.80202271A>CCA357395270PRDM8c.809A>C (p.Asn270Thr)
c.812A>C (p.Asn271Thr)
c.1652A>C (p.Asn551Thr)
c.1649A>C (p.Asn550Thr)
c.1511A>C (p.Asn504Thr)
c.1364A>C (p.Asn455Thr)
c.1226A>C (p.Asn409Thr)
c.1205A>C (p.Asn402Thr)
c.1361A>C (p.Asn454Thr)
c.1448A>C (p.Asn483Thr)
4g.80202271A>GCA357395271PRDM8c.809A>G (p.Asn270Ser)
c.812A>G (p.Asn271Ser)
c.1652A>G (p.Asn551Ser)
c.1649A>G (p.Asn550Ser)
c.1511A>G (p.Asn504Ser)
c.1364A>G (p.Asn455Ser)
c.1226A>G (p.Asn409Ser)
c.1205A>G (p.Asn402Ser)
c.1361A>G (p.Asn454Ser)
c.1448A>G (p.Asn483Ser)
4g.80202271A>TCA357395272PRDM8c.809A>T (p.Asn270Ile)
c.812A>T (p.Asn271Ile)
c.1652A>T (p.Asn551Ile)
c.1649A>T (p.Asn550Ile)
c.1511A>T (p.Asn504Ile)
c.1364A>T (p.Asn455Ile)
c.1226A>T (p.Asn409Ile)
c.1205A>T (p.Asn402Ile)
c.1361A>T (p.Asn454Ile)
c.1448A>T (p.Asn483Ile)
4g.80202272C>ACA357395273PRDM8c.810C>A (p.Asn270Lys)
c.813C>A (p.Asn271Lys)
c.1653C>A (p.Asn551Lys)
c.1650C>A (p.Asn550Lys)
c.1512C>A (p.Asn504Lys)
c.1365C>A (p.Asn455Lys)
c.1227C>A (p.Asn409Lys)
c.1206C>A (p.Asn402Lys)
c.1362C>A (p.Asn454Lys)
c.1449C>A (p.Asn483Lys)
4g.80202272C>GCA357395274PRDM8c.810C>G (p.Asn270Lys)
c.813C>G (p.Asn271Lys)
c.1653C>G (p.Asn551Lys)
c.1650C>G (p.Asn550Lys)
c.1512C>G (p.Asn504Lys)
c.1365C>G (p.Asn455Lys)
c.1227C>G (p.Asn409Lys)
c.1206C>G (p.Asn402Lys)
c.1362C>G (p.Asn454Lys)
c.1449C>G (p.Asn483Lys)
4g.80202272C>TCA440226963PRDM8c.810C>T (p.Asn270=)
c.813C>T (p.Asn271=)
c.1653C>T (p.Asn551=)
c.1650C>T (p.Asn550=)
c.1512C>T (p.Asn504=)
c.1365C>T (p.Asn455=)
c.1227C>T (p.Asn409=)
c.1206C>T (p.Asn402=)
c.1362C>T (p.Asn454=)
c.1449C>T (p.Asn483=)
4g.80202273T>ACA357395275PRDM8c.811T>A (p.Ser271Thr)
c.814T>A (p.Ser272Thr)
c.1654T>A (p.Ser552Thr)
c.1651T>A (p.Ser551Thr)
c.1513T>A (p.Ser505Thr)
c.1366T>A (p.Ser456Thr)
c.1228T>A (p.Ser410Thr)
c.1207T>A (p.Ser403Thr)
c.1363T>A (p.Ser455Thr)
c.1450T>A (p.Ser484Thr)
4g.80202273T>CCA357395276PRDM8c.811T>C (p.Ser271Pro)
c.814T>C (p.Ser272Pro)
c.1654T>C (p.Ser552Pro)
c.1651T>C (p.Ser551Pro)
c.1513T>C (p.Ser505Pro)
c.1366T>C (p.Ser456Pro)
c.1228T>C (p.Ser410Pro)
c.1207T>C (p.Ser403Pro)
c.1363T>C (p.Ser455Pro)
c.1450T>C (p.Ser484Pro)
4g.80202273T>GCA357395277PRDM8c.811T>G (p.Ser271Ala)
c.814T>G (p.Ser272Ala)
c.1654T>G (p.Ser552Ala)
c.1651T>G (p.Ser551Ala)
c.1513T>G (p.Ser505Ala)
c.1366T>G (p.Ser456Ala)
c.1228T>G (p.Ser410Ala)
c.1207T>G (p.Ser403Ala)
c.1363T>G (p.Ser455Ala)
c.1450T>G (p.Ser484Ala)
 dbSNP
4g.80202273T=CA1471292698PRDM8c.811T= (p.Ser271=)
c.814T= (p.Ser272=)
c.1654T= (p.Ser552=)
c.1651T= (p.Ser551=)
c.1513T= (p.Ser505=)
c.1366T= (p.Ser456=)
c.1228T= (p.Ser410=)
c.1207T= (p.Ser403=)
c.1363T= (p.Ser455=)
c.1450T= (p.Ser484=)
4g.80202274C>ACA357395278PRDM8c.812C>A (p.Ser271Tyr)
c.815C>A (p.Ser272Tyr)
c.1655C>A (p.Ser552Tyr)
c.1652C>A (p.Ser551Tyr)
c.1514C>A (p.Ser505Tyr)
c.1367C>A (p.Ser456Tyr)
c.1229C>A (p.Ser410Tyr)
c.1208C>A (p.Ser403Tyr)
c.1364C>A (p.Ser455Tyr)
c.1451C>A (p.Ser484Tyr)
4g.80202274C>GCA357395279PRDM8c.812C>G (p.Ser271Cys)
c.815C>G (p.Ser272Cys)
c.1655C>G (p.Ser552Cys)
c.1652C>G (p.Ser551Cys)
c.1514C>G (p.Ser505Cys)
c.1367C>G (p.Ser456Cys)
c.1229C>G (p.Ser410Cys)
c.1208C>G (p.Ser403Cys)
c.1364C>G (p.Ser455Cys)
c.1451C>G (p.Ser484Cys)
4g.80202274C>TCA357395280PRDM8c.812C>T (p.Ser271Phe)
c.815C>T (p.Ser272Phe)
c.1655C>T (p.Ser552Phe)
c.1652C>T (p.Ser551Phe)
c.1514C>T (p.Ser505Phe)
c.1367C>T (p.Ser456Phe)
c.1229C>T (p.Ser410Phe)
c.1208C>T (p.Ser403Phe)
c.1364C>T (p.Ser455Phe)
c.1451C>T (p.Ser484Phe)
4g.80202275C>ACA440226975PRDM8c.813C>A (p.Ser271=)
c.816C>A (p.Ser272=)
c.1656C>A (p.Ser552=)
c.1653C>A (p.Ser551=)
c.1515C>A (p.Ser505=)
c.1368C>A (p.Ser456=)
c.1230C>A (p.Ser410=)
c.1209C>A (p.Ser403=)
c.1365C>A (p.Ser455=)
c.1452C>A (p.Ser484=)
4g.80202275C>GCA440226976PRDM8c.813C>G (p.Ser271=)
c.816C>G (p.Ser272=)
c.1656C>G (p.Ser552=)
c.1653C>G (p.Ser551=)
c.1515C>G (p.Ser505=)
c.1368C>G (p.Ser456=)
c.1230C>G (p.Ser410=)
c.1209C>G (p.Ser403=)
c.1365C>G (p.Ser455=)
c.1452C>G (p.Ser484=)
4g.80202275C>TCA440226979PRDM8c.813C>T (p.Ser271=)
c.816C>T (p.Ser272=)
c.1656C>T (p.Ser552=)
c.1653C>T (p.Ser551=)
c.1515C>T (p.Ser505=)
c.1368C>T (p.Ser456=)
c.1230C>T (p.Ser410=)
c.1209C>T (p.Ser403=)
c.1365C>T (p.Ser455=)
c.1452C>T (p.Ser484=)
4g.80202276C>ACA440226986PRDM8c.814C>A (p.Arg272=)
c.817C>A (p.Arg273=)
c.1657C>A (p.Arg553=)
c.1654C>A (p.Arg552=)
c.1516C>A (p.Arg506=)
c.1369C>A (p.Arg457=)
c.1231C>A (p.Arg411=)
c.1210C>A (p.Arg404=)
c.1366C>A (p.Arg456=)
c.1453C>A (p.Arg485=)
4g.80202276C=CA1471292704PRDM8c.814C= (p.Arg272=)
c.817C= (p.Arg273=)
c.1657C= (p.Arg553=)
c.1654C= (p.Arg552=)
c.1516C= (p.Arg506=)
c.1369C= (p.Arg457=)
c.1231C= (p.Arg411=)
c.1210C= (p.Arg404=)
c.1366C= (p.Arg456=)
c.1453C= (p.Arg485=)
4g.80202276C>GCA357395281PRDM8c.814C>G (p.Arg272Gly)
c.817C>G (p.Arg273Gly)
c.1657C>G (p.Arg553Gly)
c.1654C>G (p.Arg552Gly)
c.1516C>G (p.Arg506Gly)
c.1369C>G (p.Arg457Gly)
c.1231C>G (p.Arg411Gly)
c.1210C>G (p.Arg404Gly)
c.1366C>G (p.Arg456Gly)
c.1453C>G (p.Arg485Gly)
4g.80202276C>TCA2982328PRDM8c.814C>T (p.Arg272Trp)
c.817C>T (p.Arg273Trp)
c.1657C>T (p.Arg553Trp)
c.1654C>T (p.Arg552Trp)
c.1516C>T (p.Arg506Trp)
c.1369C>T (p.Arg457Trp)
c.1231C>T (p.Arg411Trp)
c.1210C>T (p.Arg404Trp)
c.1366C>T (p.Arg456Trp)
c.1453C>T (p.Arg485Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202277G>ACA2982329PRDM8c.815G>A (p.Arg272Gln)
c.818G>A (p.Arg273Gln)
c.1658G>A (p.Arg553Gln)
c.1655G>A (p.Arg552Gln)
c.1517G>A (p.Arg506Gln)
c.1370G>A (p.Arg457Gln)
c.1232G>A (p.Arg411Gln)
c.1211G>A (p.Arg404Gln)
c.1367G>A (p.Arg456Gln)
c.1454G>A (p.Arg485Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202277G>CCA357395285PRDM8c.815G>C (p.Arg272Pro)
c.818G>C (p.Arg273Pro)
c.1658G>C (p.Arg553Pro)
c.1655G>C (p.Arg552Pro)
c.1517G>C (p.Arg506Pro)
c.1370G>C (p.Arg457Pro)
c.1232G>C (p.Arg411Pro)
c.1211G>C (p.Arg404Pro)
c.1367G>C (p.Arg456Pro)
c.1454G>C (p.Arg485Pro)
4g.80202277G=CA1471292715PRDM8c.815G= (p.Arg272=)
c.818G= (p.Arg273=)
c.1658G= (p.Arg553=)
c.1655G= (p.Arg552=)
c.1517G= (p.Arg506=)
c.1370G= (p.Arg457=)
c.1232G= (p.Arg411=)
c.1211G= (p.Arg404=)
c.1367G= (p.Arg456=)
c.1454G= (p.Arg485=)
4g.80202277G>TCA357395286PRDM8c.815G>T (p.Arg272Leu)
c.818G>T (p.Arg273Leu)
c.1658G>T (p.Arg553Leu)
c.1655G>T (p.Arg552Leu)
c.1517G>T (p.Arg506Leu)
c.1370G>T (p.Arg457Leu)
c.1232G>T (p.Arg411Leu)
c.1211G>T (p.Arg404Leu)
c.1367G>T (p.Arg456Leu)
c.1454G>T (p.Arg485Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.80202278G>ACA440226995PRDM8c.816G>A (p.Arg272=)
c.819G>A (p.Arg273=)
c.1659G>A (p.Arg553=)
c.1656G>A (p.Arg552=)
c.1518G>A (p.Arg506=)
c.1371G>A (p.Arg457=)
c.1233G>A (p.Arg411=)
c.1212G>A (p.Arg404=)
c.1368G>A (p.Arg456=)
c.1455G>A (p.Arg485=)
4g.80202278G>CCA440226997PRDM8c.816G>C (p.Arg272=)
c.819G>C (p.Arg273=)
c.1659G>C (p.Arg553=)
c.1656G>C (p.Arg552=)
c.1518G>C (p.Arg506=)
c.1371G>C (p.Arg457=)
c.1233G>C (p.Arg411=)
c.1212G>C (p.Arg404=)
c.1368G>C (p.Arg456=)
c.1455G>C (p.Arg485=)
4g.80202278G>TCA440226998PRDM8c.816G>T (p.Arg272=)
c.819G>T (p.Arg273=)
c.1659G>T (p.Arg553=)
c.1656G>T (p.Arg552=)
c.1518G>T (p.Arg506=)
c.1371G>T (p.Arg457=)
c.1233G>T (p.Arg411=)
c.1212G>T (p.Arg404=)
c.1368G>T (p.Arg456=)
c.1455G>T (p.Arg485=)
4g.80202279G>ACA357395289PRDM8c.817G>A (p.Gly273Arg)
c.820G>A (p.Gly274Arg)
c.1660G>A (p.Gly554Arg)
c.1657G>A (p.Gly553Arg)
c.1519G>A (p.Gly507Arg)
c.1372G>A (p.Gly458Arg)
c.1234G>A (p.Gly412Arg)
c.1213G>A (p.Gly405Arg)
c.1369G>A (p.Gly457Arg)
c.1456G>A (p.Gly486Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.80202279G>CCA357395290PRDM8c.817G>C (p.Gly273Arg)
c.820G>C (p.Gly274Arg)
c.1660G>C (p.Gly554Arg)
c.1657G>C (p.Gly553Arg)
c.1519G>C (p.Gly507Arg)
c.1372G>C (p.Gly458Arg)
c.1234G>C (p.Gly412Arg)
c.1213G>C (p.Gly405Arg)
c.1369G>C (p.Gly457Arg)
c.1456G>C (p.Gly486Arg)
 gnomAD v4
4g.80202279G=CA1471292722PRDM8c.817G= (p.Gly273=)
c.820G= (p.Gly274=)
c.1660G= (p.Gly554=)
c.1657G= (p.Gly553=)
c.1519G= (p.Gly507=)
c.1372G= (p.Gly458=)
c.1234G= (p.Gly412=)
c.1213G= (p.Gly405=)
c.1369G= (p.Gly457=)
c.1456G= (p.Gly486=)
4g.80202279G>TCA357395291PRDM8c.817G>T (p.Gly273Ter)
c.820G>T (p.Gly274Ter)
c.1660G>T (p.Gly554Ter)
c.1657G>T (p.Gly553Ter)
c.1519G>T (p.Gly507Ter)
c.1372G>T (p.Gly458Ter)
c.1234G>T (p.Gly412Ter)
c.1213G>T (p.Gly405Ter)
c.1369G>T (p.Gly457Ter)
c.1456G>T (p.Gly486Ter)
4g.80202280G>ACA2982330PRDM8c.818G>A (p.Gly273Glu)
c.821G>A (p.Gly274Glu)
c.1661G>A (p.Gly554Glu)
c.1658G>A (p.Gly553Glu)
c.1520G>A (p.Gly507Glu)
c.1373G>A (p.Gly458Glu)
c.1235G>A (p.Gly412Glu)
c.1214G>A (p.Gly405Glu)
c.1370G>A (p.Gly457Glu)
c.1457G>A (p.Gly486Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202280G>CCA357395292PRDM8c.818G>C (p.Gly273Ala)
c.821G>C (p.Gly274Ala)
c.1661G>C (p.Gly554Ala)
c.1658G>C (p.Gly553Ala)
c.1520G>C (p.Gly507Ala)
c.1373G>C (p.Gly458Ala)
c.1235G>C (p.Gly412Ala)
c.1214G>C (p.Gly405Ala)
c.1370G>C (p.Gly457Ala)
c.1457G>C (p.Gly486Ala)
4g.80202280G=CA1471292726PRDM8c.818G= (p.Gly273=)
c.821G= (p.Gly274=)
c.1661G= (p.Gly554=)
c.1658G= (p.Gly553=)
c.1520G= (p.Gly507=)
c.1373G= (p.Gly458=)
c.1235G= (p.Gly412=)
c.1214G= (p.Gly405=)
c.1370G= (p.Gly457=)
c.1457G= (p.Gly486=)
4g.80202280G>TCA357395293PRDM8c.818G>T (p.Gly273Val)
c.821G>T (p.Gly274Val)
c.1661G>T (p.Gly554Val)
c.1658G>T (p.Gly553Val)
c.1520G>T (p.Gly507Val)
c.1373G>T (p.Gly458Val)
c.1235G>T (p.Gly412Val)
c.1214G>T (p.Gly405Val)
c.1370G>T (p.Gly457Val)
c.1457G>T (p.Gly486Val)
4g.80202281A>CCA440227008PRDM8c.819A>C (p.Gly273=)
c.822A>C (p.Gly274=)
c.1662A>C (p.Gly554=)
c.1659A>C (p.Gly553=)
c.1521A>C (p.Gly507=)
c.1374A>C (p.Gly458=)
c.1236A>C (p.Gly412=)
c.1215A>C (p.Gly405=)
c.1371A>C (p.Gly457=)
c.1458A>C (p.Gly486=)
4g.80202281A>GCA440227011PRDM8c.819A>G (p.Gly273=)
c.822A>G (p.Gly274=)
c.1662A>G (p.Gly554=)
c.1659A>G (p.Gly553=)
c.1521A>G (p.Gly507=)
c.1374A>G (p.Gly458=)
c.1236A>G (p.Gly412=)
c.1215A>G (p.Gly405=)
c.1371A>G (p.Gly457=)
c.1458A>G (p.Gly486=)
4g.80202281A>TCA440227013PRDM8c.819A>T (p.Gly273=)
c.822A>T (p.Gly274=)
c.1662A>T (p.Gly554=)
c.1659A>T (p.Gly553=)
c.1521A>T (p.Gly507=)
c.1374A>T (p.Gly458=)
c.1236A>T (p.Gly412=)
c.1215A>T (p.Gly405=)
c.1371A>T (p.Gly457=)
c.1458A>T (p.Gly486=)
4g.80202282G>ACA357395295PRDM8c.820G>A (p.Gly274Ser)
c.823G>A (p.Gly275Ser)
c.1663G>A (p.Gly555Ser)
c.1660G>A (p.Gly554Ser)
c.1522G>A (p.Gly508Ser)
c.1375G>A (p.Gly459Ser)
c.1237G>A (p.Gly413Ser)
c.1216G>A (p.Gly406Ser)
c.1372G>A (p.Gly458Ser)
c.1459G>A (p.Gly487Ser)
 dbSNP gnomAD v4
4g.80202282G>CCA357395296PRDM8c.820G>C (p.Gly274Arg)
c.823G>C (p.Gly275Arg)
c.1663G>C (p.Gly555Arg)
c.1660G>C (p.Gly554Arg)
c.1522G>C (p.Gly508Arg)
c.1375G>C (p.Gly459Arg)
c.1237G>C (p.Gly413Arg)
c.1216G>C (p.Gly406Arg)
c.1372G>C (p.Gly458Arg)
c.1459G>C (p.Gly487Arg)
 dbSNP
4g.80202282G=CA1471292729PRDM8c.820G= (p.Gly274=)
c.823G= (p.Gly275=)
c.1663G= (p.Gly555=)
c.1660G= (p.Gly554=)
c.1522G= (p.Gly508=)
c.1375G= (p.Gly459=)
c.1237G= (p.Gly413=)
c.1216G= (p.Gly406=)
c.1372G= (p.Gly458=)
c.1459G= (p.Gly487=)
4g.80202282G>TCA357395298PRDM8c.820G>T (p.Gly274Cys)
c.823G>T (p.Gly275Cys)
c.1663G>T (p.Gly555Cys)
c.1660G>T (p.Gly554Cys)
c.1522G>T (p.Gly508Cys)
c.1375G>T (p.Gly459Cys)
c.1237G>T (p.Gly413Cys)
c.1216G>T (p.Gly406Cys)
c.1372G>T (p.Gly458Cys)
c.1459G>T (p.Gly487Cys)
4g.80202283delCA2578127005PRDM8c.821del (p.Gly274AlafsTer27)
c.824del (p.Gly275AlafsTer27)
c.1664del (p.Gly555AlafsTer27)
c.1661del (p.Gly554AlafsTer27)
c.1523del (p.Gly508AlafsTer27)
c.1376del (p.Gly459AlafsTer27)
c.1238del (p.Gly413AlafsTer27)
c.1217del (p.Gly406AlafsTer27)
c.1373del (p.Gly458AlafsTer27)
c.1460del (p.Gly487AlafsTer27)
4g.80202283G>ACA357395300PRDM8c.821G>A (p.Gly274Asp)
c.824G>A (p.Gly275Asp)
c.1664G>A (p.Gly555Asp)
c.1661G>A (p.Gly554Asp)
c.1523G>A (p.Gly508Asp)
c.1376G>A (p.Gly459Asp)
c.1238G>A (p.Gly413Asp)
c.1217G>A (p.Gly406Asp)
c.1373G>A (p.Gly458Asp)
c.1460G>A (p.Gly487Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.80202283G>CCA357395302PRDM8c.821G>C (p.Gly274Ala)
c.824G>C (p.Gly275Ala)
c.1664G>C (p.Gly555Ala)
c.1661G>C (p.Gly554Ala)
c.1523G>C (p.Gly508Ala)
c.1376G>C (p.Gly459Ala)
c.1238G>C (p.Gly413Ala)
c.1217G>C (p.Gly406Ala)
c.1373G>C (p.Gly458Ala)
c.1460G>C (p.Gly487Ala)
 COSMIC
4g.80202283G=CA1471292733PRDM8c.821G= (p.Gly274=)
c.824G= (p.Gly275=)
c.1664G= (p.Gly555=)
c.1661G= (p.Gly554=)
c.1523G= (p.Gly508=)
c.1376G= (p.Gly459=)
c.1238G= (p.Gly413=)
c.1217G= (p.Gly406=)
c.1373G= (p.Gly458=)
c.1460G= (p.Gly487=)
4g.80202283G>TCA357395303PRDM8c.821G>T (p.Gly274Val)
c.824G>T (p.Gly275Val)
c.1664G>T (p.Gly555Val)
c.1661G>T (p.Gly554Val)
c.1523G>T (p.Gly508Val)
c.1376G>T (p.Gly459Val)
c.1238G>T (p.Gly413Val)
c.1217G>T (p.Gly406Val)
c.1373G>T (p.Gly458Val)
c.1460G>T (p.Gly487Val)
4g.80202284C>ACA440227021PRDM8c.822C>A (p.Gly274=)
c.825C>A (p.Gly275=)
c.1665C>A (p.Gly555=)
c.1662C>A (p.Gly554=)
c.1524C>A (p.Gly508=)
c.1377C>A (p.Gly459=)
c.1239C>A (p.Gly413=)
c.1218C>A (p.Gly406=)
c.1374C>A (p.Gly458=)
c.1461C>A (p.Gly487=)
4g.80202284C=CA1471292734PRDM8c.822C= (p.Gly274=)
c.825C= (p.Gly275=)
c.1665C= (p.Gly555=)
c.1662C= (p.Gly554=)
c.1524C= (p.Gly508=)
c.1377C= (p.Gly459=)
c.1239C= (p.Gly413=)
c.1218C= (p.Gly406=)
c.1374C= (p.Gly458=)
c.1461C= (p.Gly487=)
4g.80202284C>GCA440227026PRDM8c.822C>G (p.Gly274=)
c.825C>G (p.Gly275=)
c.1665C>G (p.Gly555=)
c.1662C>G (p.Gly554=)
c.1524C>G (p.Gly508=)
c.1377C>G (p.Gly459=)
c.1239C>G (p.Gly413=)
c.1218C>G (p.Gly406=)
c.1374C>G (p.Gly458=)
c.1461C>G (p.Gly487=)
4g.80202284C>TCA440227024PRDM8c.822C>T (p.Gly274=)
c.825C>T (p.Gly275=)
c.1665C>T (p.Gly555=)
c.1662C>T (p.Gly554=)
c.1524C>T (p.Gly508=)
c.1377C>T (p.Gly459=)
c.1239C>T (p.Gly413=)
c.1218C>T (p.Gly406=)
c.1374C>T (p.Gly458=)
c.1461C>T (p.Gly487=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202285delCA2671177789PRDM8c.823del (p.Ser275AlafsTer26)
c.826del (p.Ser276AlafsTer26)
c.1666del (p.Ser556AlafsTer26)
c.1663del (p.Ser555AlafsTer26)
c.1525del (p.Ser509AlafsTer26)
c.1378del (p.Ser460AlafsTer26)
c.1240del (p.Ser414AlafsTer26)
c.1219del (p.Ser407AlafsTer26)
c.1375del (p.Ser459AlafsTer26)
c.1462del (p.Ser488AlafsTer26)
 gnomAD v4
4g.80202285A>CCA357395305PRDM8c.823A>C (p.Ser275Arg)
c.826A>C (p.Ser276Arg)
c.1666A>C (p.Ser556Arg)
c.1663A>C (p.Ser555Arg)
c.1525A>C (p.Ser509Arg)
c.1378A>C (p.Ser460Arg)
c.1240A>C (p.Ser414Arg)
c.1219A>C (p.Ser407Arg)
c.1375A>C (p.Ser459Arg)
c.1462A>C (p.Ser488Arg)
4g.80202285A>GCA357395309PRDM8c.823A>G (p.Ser275Gly)
c.826A>G (p.Ser276Gly)
c.1666A>G (p.Ser556Gly)
c.1663A>G (p.Ser555Gly)
c.1525A>G (p.Ser509Gly)
c.1378A>G (p.Ser460Gly)
c.1240A>G (p.Ser414Gly)
c.1219A>G (p.Ser407Gly)
c.1375A>G (p.Ser459Gly)
c.1462A>G (p.Ser488Gly)
4g.80202285A>TCA357395307PRDM8c.823A>T (p.Ser275Cys)
c.826A>T (p.Ser276Cys)
c.1666A>T (p.Ser556Cys)
c.1663A>T (p.Ser555Cys)
c.1525A>T (p.Ser509Cys)
c.1378A>T (p.Ser460Cys)
c.1240A>T (p.Ser414Cys)
c.1219A>T (p.Ser407Cys)
c.1375A>T (p.Ser459Cys)
c.1462A>T (p.Ser488Cys)
 dbSNP
4g.80202286G>ACA357395310PRDM8c.824G>A (p.Ser275Asn)
c.827G>A (p.Ser276Asn)
c.1667G>A (p.Ser556Asn)
c.1664G>A (p.Ser555Asn)
c.1526G>A (p.Ser509Asn)
c.1379G>A (p.Ser460Asn)
c.1241G>A (p.Ser414Asn)
c.1220G>A (p.Ser407Asn)
c.1376G>A (p.Ser459Asn)
c.1463G>A (p.Ser488Asn)
 COSMIC
4g.80202286G>CCA357395313PRDM8c.824G>C (p.Ser275Thr)
c.827G>C (p.Ser276Thr)
c.1667G>C (p.Ser556Thr)
c.1664G>C (p.Ser555Thr)
c.1526G>C (p.Ser509Thr)
c.1379G>C (p.Ser460Thr)
c.1241G>C (p.Ser414Thr)
c.1220G>C (p.Ser407Thr)
c.1376G>C (p.Ser459Thr)
c.1463G>C (p.Ser488Thr)
4g.80202286G>TCA357395312PRDM8c.824G>T (p.Ser275Ile)
c.827G>T (p.Ser276Ile)
c.1667G>T (p.Ser556Ile)
c.1664G>T (p.Ser555Ile)
c.1526G>T (p.Ser509Ile)
c.1379G>T (p.Ser460Ile)
c.1241G>T (p.Ser414Ile)
c.1220G>T (p.Ser407Ile)
c.1376G>T (p.Ser459Ile)
c.1463G>T (p.Ser488Ile)
4g.80202287C>ACA357395316PRDM8c.825C>A (p.Ser275Arg)
c.828C>A (p.Ser276Arg)
c.1668C>A (p.Ser556Arg)
c.1665C>A (p.Ser555Arg)
c.1527C>A (p.Ser509Arg)
c.1380C>A (p.Ser460Arg)
c.1242C>A (p.Ser414Arg)
c.1221C>A (p.Ser407Arg)
c.1377C>A (p.Ser459Arg)
c.1464C>A (p.Ser488Arg)
4g.80202287C>GCA357395317PRDM8c.825C>G (p.Ser275Arg)
c.828C>G (p.Ser276Arg)
c.1668C>G (p.Ser556Arg)
c.1665C>G (p.Ser555Arg)
c.1527C>G (p.Ser509Arg)
c.1380C>G (p.Ser460Arg)
c.1242C>G (p.Ser414Arg)
c.1221C>G (p.Ser407Arg)
c.1377C>G (p.Ser459Arg)
c.1464C>G (p.Ser488Arg)
4g.80202287C>TCA440227035PRDM8c.825C>T (p.Ser275=)
c.828C>T (p.Ser276=)
c.1668C>T (p.Ser556=)
c.1665C>T (p.Ser555=)
c.1527C>T (p.Ser509=)
c.1380C>T (p.Ser460=)
c.1242C>T (p.Ser414=)
c.1221C>T (p.Ser407=)
c.1377C>T (p.Ser459=)
c.1464C>T (p.Ser488=)
4g.80202288A=CA1471292736PRDM8c.826A= (p.Ser276=)
c.829A= (p.Ser277=)
c.1669A= (p.Ser557=)
c.1666A= (p.Ser556=)
c.1528A= (p.Ser510=)
c.1381A= (p.Ser461=)
c.1243A= (p.Ser415=)
c.1222A= (p.Ser408=)
c.1378A= (p.Ser460=)
c.1465A= (p.Ser489=)
4g.80202288A>CCA357395319PRDM8c.826A>C (p.Ser276Arg)
c.829A>C (p.Ser277Arg)
c.1669A>C (p.Ser557Arg)
c.1666A>C (p.Ser556Arg)
c.1528A>C (p.Ser510Arg)
c.1381A>C (p.Ser461Arg)
c.1243A>C (p.Ser415Arg)
c.1222A>C (p.Ser408Arg)
c.1378A>C (p.Ser460Arg)
c.1465A>C (p.Ser489Arg)
4g.80202288A>GCA357395320PRDM8c.826A>G (p.Ser276Gly)
c.829A>G (p.Ser277Gly)
c.1669A>G (p.Ser557Gly)
c.1666A>G (p.Ser556Gly)
c.1528A>G (p.Ser510Gly)
c.1381A>G (p.Ser461Gly)
c.1243A>G (p.Ser415Gly)
c.1222A>G (p.Ser408Gly)
c.1378A>G (p.Ser460Gly)
c.1465A>G (p.Ser489Gly)
4g.80202288A>TCA357395322PRDM8c.826A>T (p.Ser276Cys)
c.829A>T (p.Ser277Cys)
c.1669A>T (p.Ser557Cys)
c.1666A>T (p.Ser556Cys)
c.1528A>T (p.Ser510Cys)
c.1381A>T (p.Ser461Cys)
c.1243A>T (p.Ser415Cys)
c.1222A>T (p.Ser408Cys)
c.1378A>T (p.Ser460Cys)
c.1465A>T (p.Ser489Cys)
 dbSNP gnomAD v3 gnomAD v4
4g.80202289G>ACA357395324PRDM8c.827G>A (p.Ser276Asn)
c.830G>A (p.Ser277Asn)
c.1670G>A (p.Ser557Asn)
c.1667G>A (p.Ser556Asn)
c.1529G>A (p.Ser510Asn)
c.1382G>A (p.Ser461Asn)
c.1244G>A (p.Ser415Asn)
c.1223G>A (p.Ser408Asn)
c.1379G>A (p.Ser460Asn)
c.1466G>A (p.Ser489Asn)
4g.80202289G>CCA357395325PRDM8c.827G>C (p.Ser276Thr)
c.830G>C (p.Ser277Thr)
c.1670G>C (p.Ser557Thr)
c.1667G>C (p.Ser556Thr)
c.1529G>C (p.Ser510Thr)
c.1382G>C (p.Ser461Thr)
c.1244G>C (p.Ser415Thr)
c.1223G>C (p.Ser408Thr)
c.1379G>C (p.Ser460Thr)
c.1466G>C (p.Ser489Thr)
4g.80202289G>TCA357395326PRDM8c.827G>T (p.Ser276Ile)
c.830G>T (p.Ser277Ile)
c.1670G>T (p.Ser557Ile)
c.1667G>T (p.Ser556Ile)
c.1529G>T (p.Ser510Ile)
c.1382G>T (p.Ser461Ile)
c.1244G>T (p.Ser415Ile)
c.1223G>T (p.Ser408Ile)
c.1379G>T (p.Ser460Ile)
c.1466G>T (p.Ser489Ile)
 COSMIC
4g.80202290C>ACA357395329PRDM8c.828C>A (p.Ser276Arg)
c.831C>A (p.Ser277Arg)
c.1671C>A (p.Ser557Arg)
c.1668C>A (p.Ser556Arg)
c.1530C>A (p.Ser510Arg)
c.1383C>A (p.Ser461Arg)
c.1245C>A (p.Ser415Arg)
c.1224C>A (p.Ser408Arg)
c.1380C>A (p.Ser460Arg)
c.1467C>A (p.Ser489Arg)
4g.80202290C>GCA357395330PRDM8c.828C>G (p.Ser276Arg)
c.831C>G (p.Ser277Arg)
c.1671C>G (p.Ser557Arg)
c.1668C>G (p.Ser556Arg)
c.1530C>G (p.Ser510Arg)
c.1383C>G (p.Ser461Arg)
c.1245C>G (p.Ser415Arg)
c.1224C>G (p.Ser408Arg)
c.1380C>G (p.Ser460Arg)
c.1467C>G (p.Ser489Arg)
4g.80202290C>TCA440227048PRDM8c.828C>T (p.Ser276=)
c.831C>T (p.Ser277=)
c.1671C>T (p.Ser557=)
c.1668C>T (p.Ser556=)
c.1530C>T (p.Ser510=)
c.1383C>T (p.Ser461=)
c.1245C>T (p.Ser415=)
c.1224C>T (p.Ser408=)
c.1380C>T (p.Ser460=)
c.1467C>T (p.Ser489=)
4g.80202291T>ACA357395333PRDM8c.829T>A (p.Cys277Ser)
c.832T>A (p.Cys278Ser)
c.1672T>A (p.Cys558Ser)
c.1669T>A (p.Cys557Ser)
c.1531T>A (p.Cys511Ser)
c.1384T>A (p.Cys462Ser)
c.1246T>A (p.Cys416Ser)
c.1225T>A (p.Cys409Ser)
c.1381T>A (p.Cys461Ser)
c.1468T>A (p.Cys490Ser)
4g.80202291T>CCA357395334PRDM8c.829T>C (p.Cys277Arg)
c.832T>C (p.Cys278Arg)
c.1672T>C (p.Cys558Arg)
c.1669T>C (p.Cys557Arg)
c.1531T>C (p.Cys511Arg)
c.1384T>C (p.Cys462Arg)
c.1246T>C (p.Cys416Arg)
c.1225T>C (p.Cys409Arg)
c.1381T>C (p.Cys461Arg)
c.1468T>C (p.Cys490Arg)
4g.80202291T>GCA357395336PRDM8c.829T>G (p.Cys277Gly)
c.832T>G (p.Cys278Gly)
c.1672T>G (p.Cys558Gly)
c.1669T>G (p.Cys557Gly)
c.1531T>G (p.Cys511Gly)
c.1384T>G (p.Cys462Gly)
c.1246T>G (p.Cys416Gly)
c.1225T>G (p.Cys409Gly)
c.1381T>G (p.Cys461Gly)
c.1468T>G (p.Cys490Gly)
 gnomAD v4
4g.80202292G>ACA100000319PRDM8c.830G>A (p.Cys277Tyr)
c.833G>A (p.Cys278Tyr)
c.1673G>A (p.Cys558Tyr)
c.1670G>A (p.Cys557Tyr)
c.1532G>A (p.Cys511Tyr)
c.1385G>A (p.Cys462Tyr)
c.1247G>A (p.Cys416Tyr)
c.1226G>A (p.Cys409Tyr)
c.1382G>A (p.Cys461Tyr)
c.1469G>A (p.Cys490Tyr)
 dbSNP gnomAD v4
4g.80202292G>CCA357395340PRDM8c.830G>C (p.Cys277Ser)
c.833G>C (p.Cys278Ser)
c.1673G>C (p.Cys558Ser)
c.1670G>C (p.Cys557Ser)
c.1532G>C (p.Cys511Ser)
c.1385G>C (p.Cys462Ser)
c.1247G>C (p.Cys416Ser)
c.1226G>C (p.Cys409Ser)
c.1382G>C (p.Cys461Ser)
c.1469G>C (p.Cys490Ser)
4g.80202292G=CA1471292740PRDM8c.830G= (p.Cys277=)
c.833G= (p.Cys278=)
c.1673G= (p.Cys558=)
c.1670G= (p.Cys557=)
c.1532G= (p.Cys511=)
c.1385G= (p.Cys462=)
c.1247G= (p.Cys416=)
c.1226G= (p.Cys409=)
c.1382G= (p.Cys461=)
c.1469G= (p.Cys490=)
4g.80202292G>TCA357395338PRDM8c.830G>T (p.Cys277Phe)
c.833G>T (p.Cys278Phe)
c.1673G>T (p.Cys558Phe)
c.1670G>T (p.Cys557Phe)
c.1532G>T (p.Cys511Phe)
c.1385G>T (p.Cys462Phe)
c.1247G>T (p.Cys416Phe)
c.1226G>T (p.Cys409Phe)
c.1382G>T (p.Cys461Phe)
c.1469G>T (p.Cys490Phe)
4g.80202293C>ACA357395342PRDM8c.831C>A (p.Cys277Ter)
c.834C>A (p.Cys278Ter)
c.1674C>A (p.Cys558Ter)
c.1671C>A (p.Cys557Ter)
c.1533C>A (p.Cys511Ter)
c.1386C>A (p.Cys462Ter)
c.1248C>A (p.Cys416Ter)
c.1227C>A (p.Cys409Ter)
c.1383C>A (p.Cys461Ter)
c.1470C>A (p.Cys490Ter)
4g.80202293C=CA1471292744PRDM8c.831C= (p.Cys277=)
c.834C= (p.Cys278=)
c.1674C= (p.Cys558=)
c.1671C= (p.Cys557=)
c.1533C= (p.Cys511=)
c.1386C= (p.Cys462=)
c.1248C= (p.Cys416=)
c.1227C= (p.Cys409=)
c.1383C= (p.Cys461=)
c.1470C= (p.Cys490=)
4g.80202293C>GCA357395343PRDM8c.831C>G (p.Cys277Trp)
c.834C>G (p.Cys278Trp)
c.1674C>G (p.Cys558Trp)
c.1671C>G (p.Cys557Trp)
c.1533C>G (p.Cys511Trp)
c.1386C>G (p.Cys462Trp)
c.1248C>G (p.Cys416Trp)
c.1227C>G (p.Cys409Trp)
c.1383C>G (p.Cys461Trp)
c.1470C>G (p.Cys490Trp)
4g.80202293C>TCA2982331PRDM8c.831C>T (p.Cys277=)
c.834C>T (p.Cys278=)
c.1674C>T (p.Cys558=)
c.1671C>T (p.Cys557=)
c.1533C>T (p.Cys511=)
c.1386C>T (p.Cys462=)
c.1248C>T (p.Cys416=)
c.1227C>T (p.Cys409=)
c.1383C>T (p.Cys461=)
c.1470C>T (p.Cys490=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202293dupCA2578127006PRDM8c.831dup (p.Ser278LeufsTer10)
c.834dup (p.Ser279LeufsTer10)
c.1674dup (p.Ser559LeufsTer10)
c.1671dup (p.Ser558LeufsTer10)
c.1533dup (p.Ser512LeufsTer10)
c.1386dup (p.Ser463LeufsTer10)
c.1248dup (p.Ser417LeufsTer10)
c.1227dup (p.Ser410LeufsTer10)
c.1383dup (p.Ser462LeufsTer10)
c.1470dup (p.Ser491LeufsTer10)
4g.80202294T>ACA357395344PRDM8c.832T>A (p.Ser278Thr)
c.835T>A (p.Ser279Thr)
c.1675T>A (p.Ser559Thr)
c.1672T>A (p.Ser558Thr)
c.1534T>A (p.Ser512Thr)
c.1387T>A (p.Ser463Thr)
c.1249T>A (p.Ser417Thr)
c.1228T>A (p.Ser410Thr)
c.1384T>A (p.Ser462Thr)
c.1471T>A (p.Ser491Thr)
4g.80202294T>CCA357395345PRDM8c.832T>C (p.Ser278Pro)
c.835T>C (p.Ser279Pro)
c.1675T>C (p.Ser559Pro)
c.1672T>C (p.Ser558Pro)
c.1534T>C (p.Ser512Pro)
c.1387T>C (p.Ser463Pro)
c.1249T>C (p.Ser417Pro)
c.1228T>C (p.Ser410Pro)
c.1384T>C (p.Ser462Pro)
c.1471T>C (p.Ser491Pro)
4g.80202294T>GCA357395347PRDM8c.832T>G (p.Ser278Ala)
c.835T>G (p.Ser279Ala)
c.1675T>G (p.Ser559Ala)
c.1672T>G (p.Ser558Ala)
c.1534T>G (p.Ser512Ala)
c.1387T>G (p.Ser463Ala)
c.1249T>G (p.Ser417Ala)
c.1228T>G (p.Ser410Ala)
c.1384T>G (p.Ser462Ala)
c.1471T>G (p.Ser491Ala)
4g.80202295C>ACA357395349PRDM8c.833C>A (p.Ser278Tyr)
c.836C>A (p.Ser279Tyr)
c.1676C>A (p.Ser559Tyr)
c.1673C>A (p.Ser558Tyr)
c.1535C>A (p.Ser512Tyr)
c.1388C>A (p.Ser463Tyr)
c.1250C>A (p.Ser417Tyr)
c.1229C>A (p.Ser410Tyr)
c.1385C>A (p.Ser462Tyr)
c.1472C>A (p.Ser491Tyr)
4g.80202295C=CA1471292745PRDM8c.833C= (p.Ser278=)
c.836C= (p.Ser279=)
c.1676C= (p.Ser559=)
c.1673C= (p.Ser558=)
c.1535C= (p.Ser512=)
c.1388C= (p.Ser463=)
c.1250C= (p.Ser417=)
c.1229C= (p.Ser410=)
c.1385C= (p.Ser462=)
c.1472C= (p.Ser491=)
4g.80202295C>GCA357395350PRDM8c.833C>G (p.Ser278Cys)
c.836C>G (p.Ser279Cys)
c.1676C>G (p.Ser559Cys)
c.1673C>G (p.Ser558Cys)
c.1535C>G (p.Ser512Cys)
c.1388C>G (p.Ser463Cys)
c.1250C>G (p.Ser417Cys)
c.1229C>G (p.Ser410Cys)
c.1385C>G (p.Ser462Cys)
c.1472C>G (p.Ser491Cys)
4g.80202295C>TCA357395351PRDM8c.833C>T (p.Ser278Phe)
c.836C>T (p.Ser279Phe)
c.1676C>T (p.Ser559Phe)
c.1673C>T (p.Ser558Phe)
c.1535C>T (p.Ser512Phe)
c.1388C>T (p.Ser463Phe)
c.1250C>T (p.Ser417Phe)
c.1229C>T (p.Ser410Phe)
c.1385C>T (p.Ser462Phe)
c.1472C>T (p.Ser491Phe)
 dbSNP
4g.80202298delCA2578127007PRDM8c.836del (p.Pro279GlnfsTer22)
c.839del (p.Pro280GlnfsTer22)
c.1679del (p.Pro560GlnfsTer22)
c.1676del (p.Pro559GlnfsTer22)
c.1538del (p.Pro513GlnfsTer22)
c.1391del (p.Pro464GlnfsTer22)
c.1253del (p.Pro418GlnfsTer22)
c.1232del (p.Pro411GlnfsTer22)
c.1388del (p.Pro463GlnfsTer22)
c.1475del (p.Pro492GlnfsTer22)
4g.80202296C>ACA440227065PRDM8c.834C>A (p.Ser278=)
c.837C>A (p.Ser279=)
c.1677C>A (p.Ser559=)
c.1674C>A (p.Ser558=)
c.1536C>A (p.Ser512=)
c.1389C>A (p.Ser463=)
c.1251C>A (p.Ser417=)
c.1230C>A (p.Ser410=)
c.1386C>A (p.Ser462=)
c.1473C>A (p.Ser491=)
4g.80202296C>GCA440227067PRDM8c.834C>G (p.Ser278=)
c.837C>G (p.Ser279=)
c.1677C>G (p.Ser559=)
c.1674C>G (p.Ser558=)
c.1536C>G (p.Ser512=)
c.1389C>G (p.Ser463=)
c.1251C>G (p.Ser417=)
c.1230C>G (p.Ser410=)
c.1386C>G (p.Ser462=)
c.1473C>G (p.Ser491=)
4g.80202296C>TCA440227066PRDM8c.834C>T (p.Ser278=)
c.837C>T (p.Ser279=)
c.1677C>T (p.Ser559=)
c.1674C>T (p.Ser558=)
c.1536C>T (p.Ser512=)
c.1389C>T (p.Ser463=)
c.1251C>T (p.Ser417=)
c.1230C>T (p.Ser410=)
c.1386C>T (p.Ser462=)
c.1473C>T (p.Ser491=)
 COSMIC
4g.80202297C>ACA357395355PRDM8c.835C>A (p.Pro279Thr)
c.838C>A (p.Pro280Thr)
c.1678C>A (p.Pro560Thr)
c.1675C>A (p.Pro559Thr)
c.1537C>A (p.Pro513Thr)
c.1390C>A (p.Pro464Thr)
c.1252C>A (p.Pro418Thr)
c.1231C>A (p.Pro411Thr)
c.1387C>A (p.Pro463Thr)
c.1474C>A (p.Pro492Thr)
4g.80202297C>GCA357395354PRDM8c.835C>G (p.Pro279Ala)
c.838C>G (p.Pro280Ala)
c.1678C>G (p.Pro560Ala)
c.1675C>G (p.Pro559Ala)
c.1537C>G (p.Pro513Ala)
c.1390C>G (p.Pro464Ala)
c.1252C>G (p.Pro418Ala)
c.1231C>G (p.Pro411Ala)
c.1387C>G (p.Pro463Ala)
c.1474C>G (p.Pro492Ala)
4g.80202297C>TCA357395353PRDM8c.835C>T (p.Pro279Ser)
c.838C>T (p.Pro280Ser)
c.1678C>T (p.Pro560Ser)
c.1675C>T (p.Pro559Ser)
c.1537C>T (p.Pro513Ser)
c.1390C>T (p.Pro464Ser)
c.1252C>T (p.Pro418Ser)
c.1231C>T (p.Pro411Ser)
c.1387C>T (p.Pro463Ser)
c.1474C>T (p.Pro492Ser)
4g.80202298C>ACA357395357PRDM8c.836C>A (p.Pro279Gln)
c.839C>A (p.Pro280Gln)
c.1679C>A (p.Pro560Gln)
c.1676C>A (p.Pro559Gln)
c.1538C>A (p.Pro513Gln)
c.1391C>A (p.Pro464Gln)
c.1253C>A (p.Pro418Gln)
c.1232C>A (p.Pro411Gln)
c.1388C>A (p.Pro463Gln)
c.1475C>A (p.Pro492Gln)
4g.80202298C>GCA357395358PRDM8c.836C>G (p.Pro279Arg)
c.839C>G (p.Pro280Arg)
c.1679C>G (p.Pro560Arg)
c.1676C>G (p.Pro559Arg)
c.1538C>G (p.Pro513Arg)
c.1391C>G (p.Pro464Arg)
c.1253C>G (p.Pro418Arg)
c.1232C>G (p.Pro411Arg)
c.1388C>G (p.Pro463Arg)
c.1475C>G (p.Pro492Arg)
4g.80202298C>TCA357395359PRDM8c.836C>T (p.Pro279Leu)
c.839C>T (p.Pro280Leu)
c.1679C>T (p.Pro560Leu)
c.1676C>T (p.Pro559Leu)
c.1538C>T (p.Pro513Leu)
c.1391C>T (p.Pro464Leu)
c.1253C>T (p.Pro418Leu)
c.1232C>T (p.Pro411Leu)
c.1388C>T (p.Pro463Leu)
c.1475C>T (p.Pro492Leu)
4g.80202299A=CA1471292748PRDM8c.837A= (p.Pro279=)
c.840A= (p.Pro280=)
c.1680A= (p.Pro560=)
c.1677A= (p.Pro559=)
c.1539A= (p.Pro513=)
c.1392A= (p.Pro464=)
c.1254A= (p.Pro418=)
c.1233A= (p.Pro411=)
c.1389A= (p.Pro463=)
c.1476A= (p.Pro492=)
4g.80202299A>CCA440227084PRDM8c.837A>C (p.Pro279=)
c.840A>C (p.Pro280=)
c.1680A>C (p.Pro560=)
c.1677A>C (p.Pro559=)
c.1539A>C (p.Pro513=)
c.1392A>C (p.Pro464=)
c.1254A>C (p.Pro418=)
c.1233A>C (p.Pro411=)
c.1389A>C (p.Pro463=)
c.1476A>C (p.Pro492=)
4g.80202299A>GCA100000336PRDM8c.837A>G (p.Pro279=)
c.840A>G (p.Pro280=)
c.1680A>G (p.Pro560=)
c.1677A>G (p.Pro559=)
c.1539A>G (p.Pro513=)
c.1392A>G (p.Pro464=)
c.1254A>G (p.Pro418=)
c.1233A>G (p.Pro411=)
c.1389A>G (p.Pro463=)
c.1476A>G (p.Pro492=)
 dbSNP gnomAD v3 gnomAD v4
4g.80202299A>TCA440227090PRDM8c.837A>T (p.Pro279=)
c.840A>T (p.Pro280=)
c.1680A>T (p.Pro560=)
c.1677A>T (p.Pro559=)
c.1539A>T (p.Pro513=)
c.1392A>T (p.Pro464=)
c.1254A>T (p.Pro418=)
c.1233A>T (p.Pro411=)
c.1389A>T (p.Pro463=)
c.1476A>T (p.Pro492=)
 dbSNP gnomAD v4
4g.80202300G>ACA357395361PRDM8c.838G>A (p.Ala280Thr)
c.841G>A (p.Ala281Thr)
c.1681G>A (p.Ala561Thr)
c.1678G>A (p.Ala560Thr)
c.1540G>A (p.Ala514Thr)
c.1393G>A (p.Ala465Thr)
c.1255G>A (p.Ala419Thr)
c.1234G>A (p.Ala412Thr)
c.1390G>A (p.Ala464Thr)
c.1477G>A (p.Ala493Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.80202300G>CCA357395363PRDM8c.838G>C (p.Ala280Pro)
c.841G>C (p.Ala281Pro)
c.1681G>C (p.Ala561Pro)
c.1678G>C (p.Ala560Pro)
c.1540G>C (p.Ala514Pro)
c.1393G>C (p.Ala465Pro)
c.1255G>C (p.Ala419Pro)
c.1234G>C (p.Ala412Pro)
c.1390G>C (p.Ala464Pro)
c.1477G>C (p.Ala493Pro)
 gnomAD v4
4g.80202300G=CA1471292751PRDM8c.838G= (p.Ala280=)
c.841G= (p.Ala281=)
c.1681G= (p.Ala561=)
c.1678G= (p.Ala560=)
c.1540G= (p.Ala514=)
c.1393G= (p.Ala465=)
c.1255G= (p.Ala419=)
c.1234G= (p.Ala412=)
c.1390G= (p.Ala464=)
c.1477G= (p.Ala493=)
4g.80202300G>TCA357395364PRDM8c.838G>T (p.Ala280Ser)
c.841G>T (p.Ala281Ser)
c.1681G>T (p.Ala561Ser)
c.1678G>T (p.Ala560Ser)
c.1540G>T (p.Ala514Ser)
c.1393G>T (p.Ala465Ser)
c.1255G>T (p.Ala419Ser)
c.1234G>T (p.Ala412Ser)
c.1390G>T (p.Ala464Ser)
c.1477G>T (p.Ala493Ser)
4g.80202301C>ACA357395366PRDM8c.839C>A (p.Ala280Asp)
c.842C>A (p.Ala281Asp)
c.1682C>A (p.Ala561Asp)
c.1679C>A (p.Ala560Asp)
c.1541C>A (p.Ala514Asp)
c.1394C>A (p.Ala465Asp)
c.1256C>A (p.Ala419Asp)
c.1235C>A (p.Ala412Asp)
c.1391C>A (p.Ala464Asp)
c.1478C>A (p.Ala493Asp)
4g.80202301C=CA1471292752PRDM8c.839C= (p.Ala280=)
c.842C= (p.Ala281=)
c.1682C= (p.Ala561=)
c.1679C= (p.Ala560=)
c.1541C= (p.Ala514=)
c.1394C= (p.Ala465=)
c.1256C= (p.Ala419=)
c.1235C= (p.Ala412=)
c.1391C= (p.Ala464=)
c.1478C= (p.Ala493=)
4g.80202301C>GCA357395368PRDM8c.839C>G (p.Ala280Gly)
c.842C>G (p.Ala281Gly)
c.1682C>G (p.Ala561Gly)
c.1679C>G (p.Ala560Gly)
c.1541C>G (p.Ala514Gly)
c.1394C>G (p.Ala465Gly)
c.1256C>G (p.Ala419Gly)
c.1235C>G (p.Ala412Gly)
c.1391C>G (p.Ala464Gly)
c.1478C>G (p.Ala493Gly)
4g.80202301C>TCA2982332PRDM8c.839C>T (p.Ala280Val)
c.842C>T (p.Ala281Val)
c.1682C>T (p.Ala561Val)
c.1679C>T (p.Ala560Val)
c.1541C>T (p.Ala514Val)
c.1394C>T (p.Ala465Val)
c.1256C>T (p.Ala419Val)
c.1235C>T (p.Ala412Val)
c.1391C>T (p.Ala464Val)
c.1478C>T (p.Ala493Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202302C>ACA440227099PRDM8c.840C>A (p.Ala280=)
c.843C>A (p.Ala281=)
c.1683C>A (p.Ala561=)
c.1680C>A (p.Ala560=)
c.1542C>A (p.Ala514=)
c.1395C>A (p.Ala465=)
c.1257C>A (p.Ala419=)
c.1236C>A (p.Ala412=)
c.1392C>A (p.Ala464=)
c.1479C>A (p.Ala493=)
4g.80202302C>GCA440227103PRDM8c.840C>G (p.Ala280=)
c.843C>G (p.Ala281=)
c.1683C>G (p.Ala561=)
c.1680C>G (p.Ala560=)
c.1542C>G (p.Ala514=)
c.1395C>G (p.Ala465=)
c.1257C>G (p.Ala419=)
c.1236C>G (p.Ala412=)
c.1392C>G (p.Ala464=)
c.1479C>G (p.Ala493=)
4g.80202302C>TCA440227105PRDM8c.840C>T (p.Ala280=)
c.843C>T (p.Ala281=)
c.1683C>T (p.Ala561=)
c.1680C>T (p.Ala560=)
c.1542C>T (p.Ala514=)
c.1395C>T (p.Ala465=)
c.1257C>T (p.Ala419=)
c.1236C>T (p.Ala412=)
c.1392C>T (p.Ala464=)
c.1479C>T (p.Ala493=)
4g.80202303C>ACA357395370PRDM8c.841C>A (p.Gln281Lys)
c.844C>A (p.Gln282Lys)
c.1684C>A (p.Gln562Lys)
c.1681C>A (p.Gln561Lys)
c.1543C>A (p.Gln515Lys)
c.1396C>A (p.Gln466Lys)
c.1258C>A (p.Gln420Lys)
c.1237C>A (p.Gln413Lys)
c.1393C>A (p.Gln465Lys)
c.1480C>A (p.Gln494Lys)
4g.80202303C>GCA357395372PRDM8c.841C>G (p.Gln281Glu)
c.844C>G (p.Gln282Glu)
c.1684C>G (p.Gln562Glu)
c.1681C>G (p.Gln561Glu)
c.1543C>G (p.Gln515Glu)
c.1396C>G (p.Gln466Glu)
c.1258C>G (p.Gln420Glu)
c.1237C>G (p.Gln413Glu)
c.1393C>G (p.Gln465Glu)
c.1480C>G (p.Gln494Glu)
4g.80202303C>TCA357395374PRDM8c.841C>T (p.Gln281Ter)
c.844C>T (p.Gln282Ter)
c.1684C>T (p.Gln562Ter)
c.1681C>T (p.Gln561Ter)
c.1543C>T (p.Gln515Ter)
c.1396C>T (p.Gln466Ter)
c.1258C>T (p.Gln420Ter)
c.1237C>T (p.Gln413Ter)
c.1393C>T (p.Gln465Ter)
c.1480C>T (p.Gln494Ter)
4g.80202304A=CA1471292757PRDM8c.842A= (p.Gln281=)
c.845A= (p.Gln282=)
c.1685A= (p.Gln562=)
c.1682A= (p.Gln561=)
c.1544A= (p.Gln515=)
c.1397A= (p.Gln466=)
c.1259A= (p.Gln420=)
c.1238A= (p.Gln413=)
c.1394A= (p.Gln465=)
c.1481A= (p.Gln494=)
4g.80202304A>CCA357395376PRDM8c.842A>C (p.Gln281Pro)
c.845A>C (p.Gln282Pro)
c.1685A>C (p.Gln562Pro)
c.1682A>C (p.Gln561Pro)
c.1544A>C (p.Gln515Pro)
c.1397A>C (p.Gln466Pro)
c.1259A>C (p.Gln420Pro)
c.1238A>C (p.Gln413Pro)
c.1394A>C (p.Gln465Pro)
c.1481A>C (p.Gln494Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.80202304A>GCA2982333PRDM8c.842A>G (p.Gln281Arg)
c.845A>G (p.Gln282Arg)
c.1685A>G (p.Gln562Arg)
c.1682A>G (p.Gln561Arg)
c.1544A>G (p.Gln515Arg)
c.1397A>G (p.Gln466Arg)
c.1259A>G (p.Gln420Arg)
c.1238A>G (p.Gln413Arg)
c.1394A>G (p.Gln465Arg)
c.1481A>G (p.Gln494Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202304A>TCA357395377PRDM8c.842A>T (p.Gln281Leu)
c.845A>T (p.Gln282Leu)
c.1685A>T (p.Gln562Leu)
c.1682A>T (p.Gln561Leu)
c.1544A>T (p.Gln515Leu)
c.1397A>T (p.Gln466Leu)
c.1259A>T (p.Gln420Leu)
c.1238A>T (p.Gln413Leu)
c.1394A>T (p.Gln465Leu)
c.1481A>T (p.Gln494Leu)
4g.80202305G>ACA2982334PRDM8c.843G>A (p.Gln281=)
c.846G>A (p.Gln282=)
c.1686G>A (p.Gln562=)
c.1683G>A (p.Gln561=)
c.1545G>A (p.Gln515=)
c.1398G>A (p.Gln466=)
c.1260G>A (p.Gln420=)
c.1239G>A (p.Gln413=)
c.1395G>A (p.Gln465=)
c.1482G>A (p.Gln494=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202305G>CCA357395378PRDM8c.843G>C (p.Gln281His)
c.846G>C (p.Gln282His)
c.1686G>C (p.Gln562His)
c.1683G>C (p.Gln561His)
c.1545G>C (p.Gln515His)
c.1398G>C (p.Gln466His)
c.1260G>C (p.Gln420His)
c.1239G>C (p.Gln413His)
c.1395G>C (p.Gln465His)
c.1482G>C (p.Gln494His)
4g.80202305G=CA1471292764PRDM8c.843G= (p.Gln281=)
c.846G= (p.Gln282=)
c.1686G= (p.Gln562=)
c.1683G= (p.Gln561=)
c.1545G= (p.Gln515=)
c.1398G= (p.Gln466=)
c.1260G= (p.Gln420=)
c.1239G= (p.Gln413=)
c.1395G= (p.Gln465=)
c.1482G= (p.Gln494=)
4g.80202305G>TCA357395379PRDM8c.843G>T (p.Gln281His)
c.846G>T (p.Gln282His)
c.1686G>T (p.Gln562His)
c.1683G>T (p.Gln561His)
c.1545G>T (p.Gln515His)
c.1398G>T (p.Gln466His)
c.1260G>T (p.Gln420His)
c.1239G>T (p.Gln413His)
c.1395G>T (p.Gln465His)
c.1482G>T (p.Gln494His)
4g.80202306A>CCA357395381PRDM8c.844A>C (p.Ser282Arg)
c.847A>C (p.Ser283Arg)
c.1687A>C (p.Ser563Arg)
c.1684A>C (p.Ser562Arg)
c.1546A>C (p.Ser516Arg)
c.1399A>C (p.Ser467Arg)
c.1261A>C (p.Ser421Arg)
c.1240A>C (p.Ser414Arg)
c.1396A>C (p.Ser466Arg)
c.1483A>C (p.Ser495Arg)
4g.80202306A>GCA357395383PRDM8c.844A>G (p.Ser282Gly)
c.847A>G (p.Ser283Gly)
c.1687A>G (p.Ser563Gly)
c.1684A>G (p.Ser562Gly)
c.1546A>G (p.Ser516Gly)
c.1399A>G (p.Ser467Gly)
c.1261A>G (p.Ser421Gly)
c.1240A>G (p.Ser414Gly)
c.1396A>G (p.Ser466Gly)
c.1483A>G (p.Ser495Gly)
4g.80202306A>TCA357395385PRDM8c.844A>T (p.Ser282Cys)
c.847A>T (p.Ser283Cys)
c.1687A>T (p.Ser563Cys)
c.1684A>T (p.Ser562Cys)
c.1546A>T (p.Ser516Cys)
c.1399A>T (p.Ser467Cys)
c.1261A>T (p.Ser421Cys)
c.1240A>T (p.Ser414Cys)
c.1396A>T (p.Ser466Cys)
c.1483A>T (p.Ser495Cys)
4g.80202309_80202317dupCA2671177799PRDM8c.847_855dup (p.Ser285_Gly286insLeuSerSer)
c.850_858dup (p.Ser286_Gly287insLeuSerSer)
c.1690_1698dup (p.Ser566_Gly567insLeuSerSer)
c.1687_1695dup (p.Ser565_Gly566insLeuSerSer)
c.1549_1557dup (p.Ser519_Gly520insLeuSerSer)
c.1402_1410dup (p.Ser470_Gly471insLeuSerSer)
c.1264_1272dup (p.Ser424_Gly425insLeuSerSer)
c.1243_1251dup (p.Ser417_Gly418insLeuSerSer)
c.1399_1407dup (p.Ser469_Gly470insLeuSerSer)
c.1486_1494dup (p.Ser498_Gly499insLeuSerSer)
 gnomAD v4
4g.80202307G>ACA357395387PRDM8c.845G>A (p.Ser282Asn)
c.848G>A (p.Ser283Asn)
c.1688G>A (p.Ser563Asn)
c.1685G>A (p.Ser562Asn)
c.1547G>A (p.Ser516Asn)
c.1400G>A (p.Ser467Asn)
c.1262G>A (p.Ser421Asn)
c.1241G>A (p.Ser414Asn)
c.1397G>A (p.Ser466Asn)
c.1484G>A (p.Ser495Asn)
4g.80202307G>CCA357395389PRDM8c.845G>C (p.Ser282Thr)
c.848G>C (p.Ser283Thr)
c.1688G>C (p.Ser563Thr)
c.1685G>C (p.Ser562Thr)
c.1547G>C (p.Ser516Thr)
c.1400G>C (p.Ser467Thr)
c.1262G>C (p.Ser421Thr)
c.1241G>C (p.Ser414Thr)
c.1397G>C (p.Ser466Thr)
c.1484G>C (p.Ser495Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.80202307G=CA1471292767PRDM8c.845G= (p.Ser282=)
c.848G= (p.Ser283=)
c.1688G= (p.Ser563=)
c.1685G= (p.Ser562=)
c.1547G= (p.Ser516=)
c.1400G= (p.Ser467=)
c.1262G= (p.Ser421=)
c.1241G= (p.Ser414=)
c.1397G= (p.Ser466=)
c.1484G= (p.Ser495=)
4g.80202307G>TCA357395391PRDM8c.845G>T (p.Ser282Ile)
c.848G>T (p.Ser283Ile)
c.1688G>T (p.Ser563Ile)
c.1685G>T (p.Ser562Ile)
c.1547G>T (p.Ser516Ile)
c.1400G>T (p.Ser467Ile)
c.1262G>T (p.Ser421Ile)
c.1241G>T (p.Ser414Ile)
c.1397G>T (p.Ser466Ile)
c.1484G>T (p.Ser495Ile)
4g.80202308C>ACA357395392PRDM8c.846C>A (p.Ser282Arg)
c.849C>A (p.Ser283Arg)
c.1689C>A (p.Ser563Arg)
c.1686C>A (p.Ser562Arg)
c.1548C>A (p.Ser516Arg)
c.1401C>A (p.Ser467Arg)
c.1263C>A (p.Ser421Arg)
c.1242C>A (p.Ser414Arg)
c.1398C>A (p.Ser466Arg)
c.1485C>A (p.Ser495Arg)
 gnomAD v4
4g.80202308C>GCA357395394PRDM8c.846C>G (p.Ser282Arg)
c.849C>G (p.Ser283Arg)
c.1689C>G (p.Ser563Arg)
c.1686C>G (p.Ser562Arg)
c.1548C>G (p.Ser516Arg)
c.1401C>G (p.Ser467Arg)
c.1263C>G (p.Ser421Arg)
c.1242C>G (p.Ser414Arg)
c.1398C>G (p.Ser466Arg)
c.1485C>G (p.Ser495Arg)
4g.80202308C>TCA440227122PRDM8c.846C>T (p.Ser282=)
c.849C>T (p.Ser283=)
c.1689C>T (p.Ser563=)
c.1686C>T (p.Ser562=)
c.1548C>T (p.Ser516=)
c.1401C>T (p.Ser467=)
c.1263C>T (p.Ser421=)
c.1242C>T (p.Ser414=)
c.1398C>T (p.Ser466=)
c.1485C>T (p.Ser495=)
4g.80202309C>ACA357395396PRDM8c.847C>A (p.Leu283Ile)
c.850C>A (p.Leu284Ile)
c.1690C>A (p.Leu564Ile)
c.1687C>A (p.Leu563Ile)
c.1549C>A (p.Leu517Ile)
c.1402C>A (p.Leu468Ile)
c.1264C>A (p.Leu422Ile)
c.1243C>A (p.Leu415Ile)
c.1399C>A (p.Leu467Ile)
c.1486C>A (p.Leu496Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202309C=CA1471292783PRDM8c.847C= (p.Leu283=)
c.850C= (p.Leu284=)
c.1690C= (p.Leu564=)
c.1687C= (p.Leu563=)
c.1549C= (p.Leu517=)
c.1402C= (p.Leu468=)
c.1264C= (p.Leu422=)
c.1243C= (p.Leu415=)
c.1399C= (p.Leu467=)
c.1486C= (p.Leu496=)
4g.80202309C>GCA357395397PRDM8c.847C>G (p.Leu283Val)
c.850C>G (p.Leu284Val)
c.1690C>G (p.Leu564Val)
c.1687C>G (p.Leu563Val)
c.1549C>G (p.Leu517Val)
c.1402C>G (p.Leu468Val)
c.1264C>G (p.Leu422Val)
c.1243C>G (p.Leu415Val)
c.1399C>G (p.Leu467Val)
c.1486C>G (p.Leu496Val)
4g.80202309C>TCA357395395PRDM8c.847C>T (p.Leu283Phe)
c.850C>T (p.Leu284Phe)
c.1690C>T (p.Leu564Phe)
c.1687C>T (p.Leu563Phe)
c.1549C>T (p.Leu517Phe)
c.1402C>T (p.Leu468Phe)
c.1264C>T (p.Leu422Phe)
c.1243C>T (p.Leu415Phe)
c.1399C>T (p.Leu467Phe)
c.1486C>T (p.Leu496Phe)
 dbSNP gnomAD v2
4g.80202310T>ACA357395398PRDM8c.848T>A (p.Leu283His)
c.851T>A (p.Leu284His)
c.1691T>A (p.Leu564His)
c.1688T>A (p.Leu563His)
c.1550T>A (p.Leu517His)
c.1403T>A (p.Leu468His)
c.1265T>A (p.Leu422His)
c.1244T>A (p.Leu415His)
c.1400T>A (p.Leu467His)
c.1487T>A (p.Leu496His)
 gnomAD v4
4g.80202310T>CCA357395399PRDM8c.848T>C (p.Leu283Pro)
c.851T>C (p.Leu284Pro)
c.1691T>C (p.Leu564Pro)
c.1688T>C (p.Leu563Pro)
c.1550T>C (p.Leu517Pro)
c.1403T>C (p.Leu468Pro)
c.1265T>C (p.Leu422Pro)
c.1244T>C (p.Leu415Pro)
c.1400T>C (p.Leu467Pro)
c.1487T>C (p.Leu496Pro)
4g.80202310T>GCA357395400PRDM8c.848T>G (p.Leu283Arg)
c.851T>G (p.Leu284Arg)
c.1691T>G (p.Leu564Arg)
c.1688T>G (p.Leu563Arg)
c.1550T>G (p.Leu517Arg)
c.1403T>G (p.Leu468Arg)
c.1265T>G (p.Leu422Arg)
c.1244T>G (p.Leu415Arg)
c.1400T>G (p.Leu467Arg)
c.1487T>G (p.Leu496Arg)
4g.80202310_80202322delinsTCAGCAGCGGTAGCA1471292792PRDM8c.848_860delinsTCAGCAGCGGTAG (p.Leu283=)
c.851_863delinsTCAGCAGCGGTAG (p.Leu284=)
c.1691_1703delinsTCAGCAGCGGTAG (p.Leu564=)
c.1688_1700delinsTCAGCAGCGGTAG (p.Leu563=)
c.1550_1562delinsTCAGCAGCGGTAG (p.Leu517=)
c.1403_1415delinsTCAGCAGCGGTAG (p.Leu468=)
c.1265_1277delinsTCAGCAGCGGTAG (p.Leu422=)
c.1244_1256delinsTCAGCAGCGGTAG (p.Leu415=)
c.1400_1412delinsTCAGCAGCGGTAG (p.Leu467=)
c.1487_1499delinsTCAGCAGCGGTAG (p.Leu496=)
4g.80202311C>ACA440227128PRDM8c.849C>A (p.Leu283=)
c.852C>A (p.Leu284=)
c.1692C>A (p.Leu564=)
c.1689C>A (p.Leu563=)
c.1551C>A (p.Leu517=)
c.1404C>A (p.Leu468=)
c.1266C>A (p.Leu422=)
c.1245C>A (p.Leu415=)
c.1401C>A (p.Leu467=)
c.1488C>A (p.Leu496=)
4g.80202311C>GCA440227129PRDM8c.849C>G (p.Leu283=)
c.852C>G (p.Leu284=)
c.1692C>G (p.Leu564=)
c.1689C>G (p.Leu563=)
c.1551C>G (p.Leu517=)
c.1404C>G (p.Leu468=)
c.1266C>G (p.Leu422=)
c.1245C>G (p.Leu415=)
c.1401C>G (p.Leu467=)
c.1488C>G (p.Leu496=)
4g.80202311C>TCA440227131PRDM8c.849C>T (p.Leu283=)
c.852C>T (p.Leu284=)
c.1692C>T (p.Leu564=)
c.1689C>T (p.Leu563=)
c.1551C>T (p.Leu517=)
c.1404C>T (p.Leu468=)
c.1266C>T (p.Leu422=)
c.1245C>T (p.Leu415=)
c.1401C>T (p.Leu467=)
c.1488C>T (p.Leu496=)
 COSMIC
4g.80202312_80202323dupCA2671177807PRDM8c.850_861dup (p.Ser287_Gly288insSerSerGlySer)
c.853_864dup (p.Ser288_Gly289insSerSerGlySer)
c.1693_1704dup (p.Ser568_Gly569insSerSerGlySer)
c.1690_1701dup (p.Ser567_Gly568insSerSerGlySer)
c.1552_1563dup (p.Ser521_Gly522insSerSerGlySer)
c.1405_1416dup (p.Ser472_Gly473insSerSerGlySer)
c.1267_1278dup (p.Ser426_Gly427insSerSerGlySer)
c.1246_1257dup (p.Ser419_Gly420insSerSerGlySer)
c.1402_1413dup (p.Ser471_Gly472insSerSerGlySer)
c.1489_1500dup (p.Ser500_Gly501insSerSerGlySer)
 gnomAD v4
4g.80202312_80202323delCA553082751PRDM8c.850_861del (p.Ser284_Ser287del)
c.853_864del (p.Ser285_Ser288del)
c.1693_1704del (p.Ser565_Ser568del)
c.1690_1701del (p.Ser564_Ser567del)
c.1552_1563del (p.Ser518_Ser521del)
c.1405_1416del (p.Ser469_Ser472del)
c.1267_1278del (p.Ser423_Ser426del)
c.1246_1257del (p.Ser416_Ser419del)
c.1402_1413del (p.Ser468_Ser471del)
c.1489_1500del (p.Ser497_Ser500del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202312A=CA1471292799PRDM8c.850A= (p.Ser284=)
c.853A= (p.Ser285=)
c.1693A= (p.Ser565=)
c.1690A= (p.Ser564=)
c.1552A= (p.Ser518=)
c.1405A= (p.Ser469=)
c.1267A= (p.Ser423=)
c.1246A= (p.Ser416=)
c.1402A= (p.Ser468=)
c.1489A= (p.Ser497=)
4g.80202312A>CCA357395401PRDM8c.850A>C (p.Ser284Arg)
c.853A>C (p.Ser285Arg)
c.1693A>C (p.Ser565Arg)
c.1690A>C (p.Ser564Arg)
c.1552A>C (p.Ser518Arg)
c.1405A>C (p.Ser469Arg)
c.1267A>C (p.Ser423Arg)
c.1246A>C (p.Ser416Arg)
c.1402A>C (p.Ser468Arg)
c.1489A>C (p.Ser497Arg)
4g.80202312A>GCA100000361PRDM8c.850A>G (p.Ser284Gly)
c.853A>G (p.Ser285Gly)
c.1693A>G (p.Ser565Gly)
c.1690A>G (p.Ser564Gly)
c.1552A>G (p.Ser518Gly)
c.1405A>G (p.Ser469Gly)
c.1267A>G (p.Ser423Gly)
c.1246A>G (p.Ser416Gly)
c.1402A>G (p.Ser468Gly)
c.1489A>G (p.Ser497Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.80202312A>TCA357395402PRDM8c.850A>T (p.Ser284Cys)
c.853A>T (p.Ser285Cys)
c.1693A>T (p.Ser565Cys)
c.1690A>T (p.Ser564Cys)
c.1552A>T (p.Ser518Cys)
c.1405A>T (p.Ser469Cys)
c.1267A>T (p.Ser423Cys)
c.1246A>T (p.Ser416Cys)
c.1402A>T (p.Ser468Cys)
c.1489A>T (p.Ser497Cys)
4g.80202313G>ACA357395407PRDM8c.851G>A (p.Ser284Asn)
c.854G>A (p.Ser285Asn)
c.1694G>A (p.Ser565Asn)
c.1691G>A (p.Ser564Asn)
c.1553G>A (p.Ser518Asn)
c.1406G>A (p.Ser469Asn)
c.1268G>A (p.Ser423Asn)
c.1247G>A (p.Ser416Asn)
c.1403G>A (p.Ser468Asn)
c.1490G>A (p.Ser497Asn)
 gnomAD v4
4g.80202313G>CCA357395404PRDM8c.851G>C (p.Ser284Thr)
c.854G>C (p.Ser285Thr)
c.1694G>C (p.Ser565Thr)
c.1691G>C (p.Ser564Thr)
c.1553G>C (p.Ser518Thr)
c.1406G>C (p.Ser469Thr)
c.1268G>C (p.Ser423Thr)
c.1247G>C (p.Ser416Thr)
c.1403G>C (p.Ser468Thr)
c.1490G>C (p.Ser497Thr)
4g.80202313G>TCA357395405PRDM8c.851G>T (p.Ser284Ile)
c.854G>T (p.Ser285Ile)
c.1694G>T (p.Ser565Ile)
c.1691G>T (p.Ser564Ile)
c.1553G>T (p.Ser518Ile)
c.1406G>T (p.Ser469Ile)
c.1268G>T (p.Ser423Ile)
c.1247G>T (p.Ser416Ile)
c.1403G>T (p.Ser468Ile)
c.1490G>T (p.Ser497Ile)
4g.80202320_80202331dupCA2671177813PRDM8c.858_869dup (p.Gly290_Gly291insSerGlySerGly)
c.861_872dup (p.Gly291_Gly292insSerGlySerGly)
c.1701_1712dup (p.Gly571_Gly572insSerGlySerGly)
c.1698_1709dup (p.Gly570_Gly571insSerGlySerGly)
c.1560_1571dup (p.Gly524_Gly525insSerGlySerGly)
c.1413_1424dup (p.Gly475_Gly476insSerGlySerGly)
c.1275_1286dup (p.Gly429_Gly430insSerGlySerGly)
c.1254_1265dup (p.Gly422_Gly423insSerGlySerGly)
c.1410_1421dup (p.Gly474_Gly475insSerGlySerGly)
c.1497_1508dup (p.Gly503_Gly504insSerGlySerGly)
 gnomAD v4
4g.80202314C>ACA357395411PRDM8c.852C>A (p.Ser284Arg)
c.855C>A (p.Ser285Arg)
c.1695C>A (p.Ser565Arg)
c.1692C>A (p.Ser564Arg)
c.1554C>A (p.Ser518Arg)
c.1407C>A (p.Ser469Arg)
c.1269C>A (p.Ser423Arg)
c.1248C>A (p.Ser416Arg)
c.1404C>A (p.Ser468Arg)
c.1491C>A (p.Ser497Arg)
4g.80202314C=CA1471292804PRDM8c.852C= (p.Ser284=)
c.855C= (p.Ser285=)
c.1695C= (p.Ser565=)
c.1692C= (p.Ser564=)
c.1554C= (p.Ser518=)
c.1407C= (p.Ser469=)
c.1269C= (p.Ser423=)
c.1248C= (p.Ser416=)
c.1404C= (p.Ser468=)
c.1491C= (p.Ser497=)
4g.80202314C>GCA357395412PRDM8c.852C>G (p.Ser284Arg)
c.855C>G (p.Ser285Arg)
c.1695C>G (p.Ser565Arg)
c.1692C>G (p.Ser564Arg)
c.1554C>G (p.Ser518Arg)
c.1407C>G (p.Ser469Arg)
c.1269C>G (p.Ser423Arg)
c.1248C>G (p.Ser416Arg)
c.1404C>G (p.Ser468Arg)
c.1491C>G (p.Ser497Arg)
4g.80202314C>TCA440227145PRDM8c.852C>T (p.Ser284=)
c.855C>T (p.Ser285=)
c.1695C>T (p.Ser565=)
c.1692C>T (p.Ser564=)
c.1554C>T (p.Ser518=)
c.1407C>T (p.Ser469=)
c.1269C>T (p.Ser423=)
c.1248C>T (p.Ser416=)
c.1404C>T (p.Ser468=)
c.1491C>T (p.Ser497=)
 gnomAD v4
4g.80202315A>CCA357395414PRDM8c.853A>C (p.Ser285Arg)
c.856A>C (p.Ser286Arg)
c.1696A>C (p.Ser566Arg)
c.1693A>C (p.Ser565Arg)
c.1555A>C (p.Ser519Arg)
c.1408A>C (p.Ser470Arg)
c.1270A>C (p.Ser424Arg)
c.1249A>C (p.Ser417Arg)
c.1405A>C (p.Ser469Arg)
c.1492A>C (p.Ser498Arg)
4g.80202315A>GCA357395416PRDM8c.853A>G (p.Ser285Gly)
c.856A>G (p.Ser286Gly)
c.1696A>G (p.Ser566Gly)
c.1693A>G (p.Ser565Gly)
c.1555A>G (p.Ser519Gly)
c.1408A>G (p.Ser470Gly)
c.1270A>G (p.Ser424Gly)
c.1249A>G (p.Ser417Gly)
c.1405A>G (p.Ser469Gly)
c.1492A>G (p.Ser498Gly)
4g.80202315A>TCA357395418PRDM8c.853A>T (p.Ser285Cys)
c.856A>T (p.Ser286Cys)
c.1696A>T (p.Ser566Cys)
c.1693A>T (p.Ser565Cys)
c.1555A>T (p.Ser519Cys)
c.1408A>T (p.Ser470Cys)
c.1270A>T (p.Ser424Cys)
c.1249A>T (p.Ser417Cys)
c.1405A>T (p.Ser469Cys)
c.1492A>T (p.Ser498Cys)
4g.80202320_80202325dupCA2982335PRDM8c.858_863dup (p.Gly288_Ser289insSerGly)
c.861_866dup (p.Gly289_Ser290insSerGly)
c.1701_1706dup (p.Gly569_Ser570insSerGly)
c.1698_1703dup (p.Gly568_Ser569insSerGly)
c.1560_1565dup (p.Gly522_Ser523insSerGly)
c.1413_1418dup (p.Gly473_Ser474insSerGly)
c.1275_1280dup (p.Gly427_Ser428insSerGly)
c.1254_1259dup (p.Gly420_Ser421insSerGly)
c.1410_1415dup (p.Gly472_Ser473insSerGly)
c.1497_1502dup (p.Gly501_Ser502insSerGly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202320_80202325delCA2671177819PRDM8c.858_863del (p.Ser287_Gly288del)
c.861_866del (p.Ser288_Gly289del)
c.1701_1706del (p.Ser568_Gly569del)
c.1698_1703del (p.Ser567_Gly568del)
c.1560_1565del (p.Ser521_Gly522del)
c.1413_1418del (p.Ser472_Gly473del)
c.1275_1280del (p.Ser426_Gly427del)
c.1254_1259del (p.Ser419_Gly420del)
c.1410_1415del (p.Ser471_Gly472del)
c.1497_1502del (p.Ser500_Gly501del)
 gnomAD v4
4g.80202316G>ACA357395422PRDM8c.854G>A (p.Ser285Asn)
c.857G>A (p.Ser286Asn)
c.1697G>A (p.Ser566Asn)
c.1694G>A (p.Ser565Asn)
c.1556G>A (p.Ser519Asn)
c.1409G>A (p.Ser470Asn)
c.1271G>A (p.Ser424Asn)
c.1250G>A (p.Ser417Asn)
c.1406G>A (p.Ser469Asn)
c.1493G>A (p.Ser498Asn)
4g.80202316G>CCA357395420PRDM8c.854G>C (p.Ser285Thr)
c.857G>C (p.Ser286Thr)
c.1697G>C (p.Ser566Thr)
c.1694G>C (p.Ser565Thr)
c.1556G>C (p.Ser519Thr)
c.1409G>C (p.Ser470Thr)
c.1271G>C (p.Ser424Thr)
c.1250G>C (p.Ser417Thr)
c.1406G>C (p.Ser469Thr)
c.1493G>C (p.Ser498Thr)
4g.80202316G>TCA357395421PRDM8c.854G>T (p.Ser285Ile)
c.857G>T (p.Ser286Ile)
c.1697G>T (p.Ser566Ile)
c.1694G>T (p.Ser565Ile)
c.1556G>T (p.Ser519Ile)
c.1409G>T (p.Ser470Ile)
c.1271G>T (p.Ser424Ile)
c.1250G>T (p.Ser417Ile)
c.1406G>T (p.Ser469Ile)
c.1493G>T (p.Ser498Ile)
4g.80202317C>ACA357395424PRDM8c.855C>A (p.Ser285Arg)
c.858C>A (p.Ser286Arg)
c.1698C>A (p.Ser566Arg)
c.1695C>A (p.Ser565Arg)
c.1557C>A (p.Ser519Arg)
c.1410C>A (p.Ser470Arg)
c.1272C>A (p.Ser424Arg)
c.1251C>A (p.Ser417Arg)
c.1407C>A (p.Ser469Arg)
c.1494C>A (p.Ser498Arg)
 gnomAD v4
4g.80202317C=CA1471292815PRDM8c.855C= (p.Ser285=)
c.858C= (p.Ser286=)
c.1698C= (p.Ser566=)
c.1695C= (p.Ser565=)
c.1557C= (p.Ser519=)
c.1410C= (p.Ser470=)
c.1272C= (p.Ser424=)
c.1251C= (p.Ser417=)
c.1407C= (p.Ser469=)
c.1494C= (p.Ser498=)
4g.80202317C>GCA357395426PRDM8c.855C>G (p.Ser285Arg)
c.858C>G (p.Ser286Arg)
c.1698C>G (p.Ser566Arg)
c.1695C>G (p.Ser565Arg)
c.1557C>G (p.Ser519Arg)
c.1410C>G (p.Ser470Arg)
c.1272C>G (p.Ser424Arg)
c.1251C>G (p.Ser417Arg)
c.1407C>G (p.Ser469Arg)
c.1494C>G (p.Ser498Arg)
4g.80202317C>TCA2982336PRDM8c.855C>T (p.Ser285=)
c.858C>T (p.Ser286=)
c.1698C>T (p.Ser566=)
c.1695C>T (p.Ser565=)
c.1557C>T (p.Ser519=)
c.1410C>T (p.Ser470=)
c.1272C>T (p.Ser424=)
c.1251C>T (p.Ser417=)
c.1407C>T (p.Ser469=)
c.1494C>T (p.Ser498=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202318G>ACA357395429PRDM8c.856G>A (p.Gly286Ser)
c.859G>A (p.Gly287Ser)
c.1699G>A (p.Gly567Ser)
c.1696G>A (p.Gly566Ser)
c.1558G>A (p.Gly520Ser)
c.1411G>A (p.Gly471Ser)
c.1273G>A (p.Gly425Ser)
c.1252G>A (p.Gly418Ser)
c.1408G>A (p.Gly470Ser)
c.1495G>A (p.Gly499Ser)
 gnomAD v4
4g.80202318G>CCA357395431PRDM8c.856G>C (p.Gly286Arg)
c.859G>C (p.Gly287Arg)
c.1699G>C (p.Gly567Arg)
c.1696G>C (p.Gly566Arg)
c.1558G>C (p.Gly520Arg)
c.1411G>C (p.Gly471Arg)
c.1273G>C (p.Gly425Arg)
c.1252G>C (p.Gly418Arg)
c.1408G>C (p.Gly470Arg)
c.1495G>C (p.Gly499Arg)
4g.80202318G>TCA357395432PRDM8c.856G>T (p.Gly286Cys)
c.859G>T (p.Gly287Cys)
c.1699G>T (p.Gly567Cys)
c.1696G>T (p.Gly566Cys)
c.1558G>T (p.Gly520Cys)
c.1411G>T (p.Gly471Cys)
c.1273G>T (p.Gly425Cys)
c.1252G>T (p.Gly418Cys)
c.1408G>T (p.Gly470Cys)
c.1495G>T (p.Gly499Cys)
4g.80202319G>ACA357395438PRDM8c.857G>A (p.Gly286Asp)
c.860G>A (p.Gly287Asp)
c.1700G>A (p.Gly567Asp)
c.1697G>A (p.Gly566Asp)
c.1559G>A (p.Gly520Asp)
c.1412G>A (p.Gly471Asp)
c.1274G>A (p.Gly425Asp)
c.1253G>A (p.Gly418Asp)
c.1409G>A (p.Gly470Asp)
c.1496G>A (p.Gly499Asp)
 gnomAD v4
4g.80202319G>CCA357395435PRDM8c.857G>C (p.Gly286Ala)
c.860G>C (p.Gly287Ala)
c.1700G>C (p.Gly567Ala)
c.1697G>C (p.Gly566Ala)
c.1559G>C (p.Gly520Ala)
c.1412G>C (p.Gly471Ala)
c.1274G>C (p.Gly425Ala)
c.1253G>C (p.Gly418Ala)
c.1409G>C (p.Gly470Ala)
c.1496G>C (p.Gly499Ala)
4g.80202319G>TCA357395436PRDM8c.857G>T (p.Gly286Val)
c.860G>T (p.Gly287Val)
c.1700G>T (p.Gly567Val)
c.1697G>T (p.Gly566Val)
c.1559G>T (p.Gly520Val)
c.1412G>T (p.Gly471Val)
c.1274G>T (p.Gly425Val)
c.1253G>T (p.Gly418Val)
c.1409G>T (p.Gly470Val)
c.1496G>T (p.Gly499Val)
 gnomAD v4
4g.80202320T>ACA440227173PRDM8c.858T>A (p.Gly286=)
c.861T>A (p.Gly287=)
c.1701T>A (p.Gly567=)
c.1698T>A (p.Gly566=)
c.1560T>A (p.Gly520=)
c.1413T>A (p.Gly471=)
c.1275T>A (p.Gly425=)
c.1254T>A (p.Gly418=)
c.1410T>A (p.Gly470=)
c.1497T>A (p.Gly499=)
4g.80202320T>CCA2982337PRDM8c.858T>C (p.Gly286=)
c.861T>C (p.Gly287=)
c.1701T>C (p.Gly567=)
c.1698T>C (p.Gly566=)
c.1560T>C (p.Gly520=)
c.1413T>C (p.Gly471=)
c.1275T>C (p.Gly425=)
c.1254T>C (p.Gly418=)
c.1410T>C (p.Gly470=)
c.1497T>C (p.Gly499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.80202320T>GCA440227169PRDM8c.858T>G (p.Gly286=)
c.861T>G (p.Gly287=)
c.1701T>G (p.Gly567=)
c.1698T>G (p.Gly566=)
c.1560T>G (p.Gly520=)
c.1413T>G (p.Gly471=)
c.1275T>G (p.Gly425=)
c.1254T>G (p.Gly418=)
c.1410T>G (p.Gly470=)
c.1497T>G (p.Gly499=)
4g.80202320T=CA1471292817PRDM8c.858T= (p.Gly286=)
c.861T= (p.Gly287=)
c.1701T= (p.Gly567=)
c.1698T= (p.Gly566=)
c.1560T= (p.Gly520=)
c.1413T= (p.Gly471=)
c.1275T= (p.Gly425=)
c.1254T= (p.Gly418=)
c.1410T= (p.Gly470=)
c.1497T= (p.Gly499=)
4g.80202320_80202326delinsTAGCGGCCA1471292816PRDM8c.858_864delinsTAGCGGC (p.Gly286=)
c.861_867delinsTAGCGGC (p.Gly287=)
c.1701_1707delinsTAGCGGC (p.Gly567=)
c.1698_1704delinsTAGCGGC (p.Gly566=)
c.1560_1566delinsTAGCGGC (p.Gly520=)
c.1413_1419delinsTAGCGGC (p.Gly471=)
c.1275_1281delinsTAGCGGC (p.Gly425=)
c.1254_1260delinsTAGCGGC (p.Gly418=)
c.1410_1416delinsTAGCGGC (p.Gly470=)
c.1497_1503delinsTAGCGGC (p.Gly499=)
4g.80202321delCA2578127009PRDM8c.859del (p.Ser287AlafsTer14)
c.862del (p.Ser288AlafsTer14)
c.1702del (p.Ser568AlafsTer14)
c.1699del (p.Ser567AlafsTer14)
c.1561del (p.Ser521AlafsTer14)
c.1414del (p.Ser472AlafsTer14)
c.1276del (p.Ser426AlafsTer14)
c.1255del (p.Ser419AlafsTer14)
c.1411del (p.Ser471AlafsTer14)
c.1498del (p.Ser500AlafsTer14)
4g.80202321A=CA1471292829PRDM8c.859A= (p.Ser287=)
c.862A= (p.Ser288=)
c.1702A= (p.Ser568=)
c.1699A= (p.Ser567=)
c.1561A= (p.Ser521=)
c.1414A= (p.Ser472=)
c.1276A= (p.Ser426=)
c.1255A= (p.Ser419=)
c.1411A= (p.Ser471=)
c.1498A= (p.Ser500=)
4g.80202321A>CCA357395440PRDM8c.859A>C (p.Ser287Arg)
c.862A>C (p.Ser288Arg)
c.1702A>C (p.Ser568Arg)
c.1699A>C (p.Ser567Arg)
c.1561A>C (p.Ser521Arg)
c.1414A>C (p.Ser472Arg)
c.1276A>C (p.Ser426Arg)
c.1255A>C (p.Ser419Arg)
c.1411A>C (p.Ser471Arg)
c.1498A>C (p.Ser500Arg)
4g.80202321A>GCA357395442PRDM8c.859A>G (p.Ser287Gly)
c.862A>G (p.Ser288Gly)
c.1702A>G (p.Ser568Gly)
c.1699A>G (p.Ser567Gly)
c.1561A>G (p.Ser521Gly)
c.1414A>G (p.Ser472Gly)
c.1276A>G (p.Ser426Gly)
c.1255A>G (p.Ser419Gly)
c.1411A>G (p.Ser471Gly)
c.1498A>G (p.Ser500Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202321A>TCA357395444PRDM8c.859A>T (p.Ser287Cys)
c.862A>T (p.Ser288Cys)
c.1702A>T (p.Ser568Cys)
c.1699A>T (p.Ser567Cys)
c.1561A>T (p.Ser521Cys)
c.1414A>T (p.Ser472Cys)
c.1276A>T (p.Ser426Cys)
c.1255A>T (p.Ser419Cys)
c.1411A>T (p.Ser471Cys)
c.1498A>T (p.Ser500Cys)
4g.80202327_80202332dupCA553082752PRDM8c.865_870dup (p.Gly290_Gly291insSerGly)
c.868_873dup (p.Gly291_Gly292insSerGly)
c.1708_1713dup (p.Gly571_Gly572insSerGly)
c.1705_1710dup (p.Gly570_Gly571insSerGly)
c.1567_1572dup (p.Gly524_Gly525insSerGly)
c.1420_1425dup (p.Gly475_Gly476insSerGly)
c.1282_1287dup (p.Gly429_Gly430insSerGly)
c.1261_1266dup (p.Gly422_Gly423insSerGly)
c.1417_1422dup (p.Gly474_Gly475insSerGly)
c.1504_1509dup (p.Gly503_Gly504insSerGly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202321_80202332dupCA2578127008PRDM8c.859_870dup (p.Gly290_Gly291insSerGlySerGly)
c.862_873dup (p.Gly291_Gly292insSerGlySerGly)
c.1702_1713dup (p.Gly571_Gly572insSerGlySerGly)
c.1699_1710dup (p.Gly570_Gly571insSerGlySerGly)
c.1561_1572dup (p.Gly524_Gly525insSerGlySerGly)
c.1414_1425dup (p.Gly475_Gly476insSerGlySerGly)
c.1276_1287dup (p.Gly429_Gly430insSerGlySerGly)
c.1255_1266dup (p.Gly422_Gly423insSerGlySerGly)
c.1411_1422dup (p.Gly474_Gly475insSerGlySerGly)
c.1498_1509dup (p.Gly503_Gly504insSerGlySerGly)
4g.80202327_80202332delCA2982338PRDM8c.865_870del (p.Ser289_Gly290del)
c.868_873del (p.Ser290_Gly291del)
c.1708_1713del (p.Ser570_Gly571del)
c.1705_1710del (p.Ser569_Gly570del)
c.1567_1572del (p.Ser523_Gly524del)
c.1420_1425del (p.Ser474_Gly475del)
c.1282_1287del (p.Ser428_Gly429del)
c.1261_1266del (p.Ser421_Gly422del)
c.1417_1422del (p.Ser473_Gly474del)
c.1504_1509del (p.Ser502_Gly503del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202322G>ACA357395450PRDM8c.860G>A (p.Ser287Asn)
c.863G>A (p.Ser288Asn)
c.1703G>A (p.Ser568Asn)
c.1700G>A (p.Ser567Asn)
c.1562G>A (p.Ser521Asn)
c.1415G>A (p.Ser472Asn)
c.1277G>A (p.Ser426Asn)
c.1256G>A (p.Ser419Asn)
c.1412G>A (p.Ser471Asn)
c.1499G>A (p.Ser500Asn)
4g.80202322G>CCA357395449PRDM8c.860G>C (p.Ser287Thr)
c.863G>C (p.Ser288Thr)
c.1703G>C (p.Ser568Thr)
c.1700G>C (p.Ser567Thr)
c.1562G>C (p.Ser521Thr)
c.1415G>C (p.Ser472Thr)
c.1277G>C (p.Ser426Thr)
c.1256G>C (p.Ser419Thr)
c.1412G>C (p.Ser471Thr)
c.1499G>C (p.Ser500Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202322G=CA1471292839PRDM8c.860G= (p.Ser287=)
c.863G= (p.Ser288=)
c.1703G= (p.Ser568=)
c.1700G= (p.Ser567=)
c.1562G= (p.Ser521=)
c.1415G= (p.Ser472=)
c.1277G= (p.Ser426=)
c.1256G= (p.Ser419=)
c.1412G= (p.Ser471=)
c.1499G= (p.Ser500=)
4g.80202322G>TCA357395447PRDM8c.860G>T (p.Ser287Ile)
c.863G>T (p.Ser288Ile)
c.1703G>T (p.Ser568Ile)
c.1700G>T (p.Ser567Ile)
c.1562G>T (p.Ser521Ile)
c.1415G>T (p.Ser472Ile)
c.1277G>T (p.Ser426Ile)
c.1256G>T (p.Ser419Ile)
c.1412G>T (p.Ser471Ile)
c.1499G>T (p.Ser500Ile)
4g.80202327_80202335dupCA2982339PRDM8c.865_873dup (p.Gly291_Gly292insSerGlyGly)
c.868_876dup (p.Gly292_Gly293insSerGlyGly)
c.1708_1716dup (p.Gly572_Gly573insSerGlyGly)
c.1705_1713dup (p.Gly571_Gly572insSerGlyGly)
c.1567_1575dup (p.Gly525_Gly526insSerGlyGly)
c.1420_1428dup (p.Gly476_Gly477insSerGlyGly)
c.1282_1290dup (p.Gly430_Gly431insSerGlyGly)
c.1261_1269dup (p.Gly423_Gly424insSerGlyGly)
c.1417_1425dup (p.Gly475_Gly476insSerGlyGly)
c.1504_1512dup (p.Gly504_Gly505insSerGlyGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202327_80202335delCA2671177832PRDM8c.865_873del (p.Ser289_Gly291del)
c.868_876del (p.Ser290_Gly292del)
c.1708_1716del (p.Ser570_Gly572del)
c.1705_1713del (p.Ser569_Gly571del)
c.1567_1575del (p.Ser523_Gly525del)
c.1420_1428del (p.Ser474_Gly476del)
c.1282_1290del (p.Ser428_Gly430del)
c.1261_1269del (p.Ser421_Gly423del)
c.1417_1425del (p.Ser473_Gly475del)
c.1504_1512del (p.Ser502_Gly504del)
 gnomAD v4
4g.80202327_80202338dupCA2982340PRDM8c.865_876dup (p.Gly292_Gly293insSerGlyGlyGly)
c.868_879dup (p.Gly293_Gly294insSerGlyGlyGly)
c.1708_1719dup (p.Gly573_Gly574insSerGlyGlyGly)
c.1705_1716dup (p.Gly572_Gly573insSerGlyGlyGly)
c.1567_1578dup (p.Gly526_Gly527insSerGlyGlyGly)
c.1420_1431dup (p.Gly477_Gly478insSerGlyGlyGly)
c.1282_1293dup (p.Gly431_Gly432insSerGlyGlyGly)
c.1261_1272dup (p.Gly424_Gly425insSerGlyGlyGly)
c.1417_1428dup (p.Gly476_Gly477insSerGlyGlyGly)
c.1504_1515dup (p.Gly505_Gly506insSerGlyGlyGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202327_80202338delCA2671177834PRDM8c.865_876del (p.Ser289_Gly292del)
c.868_879del (p.Ser290_Gly293del)
c.1708_1719del (p.Ser570_Gly573del)
c.1705_1716del (p.Ser569_Gly572del)
c.1567_1578del (p.Ser523_Gly526del)
c.1420_1431del (p.Ser474_Gly477del)
c.1282_1293del (p.Ser428_Gly431del)
c.1261_1272del (p.Ser421_Gly424del)
c.1417_1428del (p.Ser473_Gly476del)
c.1504_1515del (p.Ser502_Gly505del)
 gnomAD v4
4g.80202323C>ACA357395452PRDM8c.861C>A (p.Ser287Arg)
c.864C>A (p.Ser288Arg)
c.1704C>A (p.Ser568Arg)
c.1701C>A (p.Ser567Arg)
c.1563C>A (p.Ser521Arg)
c.1416C>A (p.Ser472Arg)
c.1278C>A (p.Ser426Arg)
c.1257C>A (p.Ser419Arg)
c.1413C>A (p.Ser471Arg)
c.1500C>A (p.Ser500Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.80202323C=CA1471292845PRDM8c.861C= (p.Ser287=)
c.864C= (p.Ser288=)
c.1704C= (p.Ser568=)
c.1701C= (p.Ser567=)
c.1563C= (p.Ser521=)
c.1416C= (p.Ser472=)
c.1278C= (p.Ser426=)
c.1257C= (p.Ser419=)
c.1413C= (p.Ser471=)
c.1500C= (p.Ser500=)
4g.80202323C>GCA2982341PRDM8c.861C>G (p.Ser287Arg)
c.864C>G (p.Ser288Arg)
c.1704C>G (p.Ser568Arg)
c.1701C>G (p.Ser567Arg)
c.1563C>G (p.Ser521Arg)
c.1416C>G (p.Ser472Arg)
c.1278C>G (p.Ser426Arg)
c.1257C>G (p.Ser419Arg)
c.1413C>G (p.Ser471Arg)
c.1500C>G (p.Ser500Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202323C>TCA440227199PRDM8c.861C>T (p.Ser287=)
c.864C>T (p.Ser288=)
c.1704C>T (p.Ser568=)
c.1701C>T (p.Ser567=)
c.1563C>T (p.Ser521=)
c.1416C>T (p.Ser472=)
c.1278C>T (p.Ser426=)
c.1257C>T (p.Ser419=)
c.1413C>T (p.Ser471=)
c.1500C>T (p.Ser500=)
 dbSNP gnomAD v2 gnomAD v4
4g.80202324G>ACA100000409PRDM8c.862G>A (p.Gly288Ser)
c.865G>A (p.Gly289Ser)
c.1705G>A (p.Gly569Ser)
c.1702G>A (p.Gly568Ser)
c.1564G>A (p.Gly522Ser)
c.1417G>A (p.Gly473Ser)
c.1279G>A (p.Gly427Ser)
c.1258G>A (p.Gly420Ser)
c.1414G>A (p.Gly472Ser)
c.1501G>A (p.Gly501Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202324G>CCA357395455PRDM8c.862G>C (p.Gly288Arg)
c.865G>C (p.Gly289Arg)
c.1705G>C (p.Gly569Arg)
c.1702G>C (p.Gly568Arg)
c.1564G>C (p.Gly522Arg)
c.1417G>C (p.Gly473Arg)
c.1279G>C (p.Gly427Arg)
c.1258G>C (p.Gly420Arg)
c.1414G>C (p.Gly472Arg)
c.1501G>C (p.Gly501Arg)
4g.80202324G=CA1471292850PRDM8c.862G= (p.Gly288=)
c.865G= (p.Gly289=)
c.1705G= (p.Gly569=)
c.1702G= (p.Gly568=)
c.1564G= (p.Gly522=)
c.1417G= (p.Gly473=)
c.1279G= (p.Gly427=)
c.1258G= (p.Gly420=)
c.1414G= (p.Gly472=)
c.1501G= (p.Gly501=)
4g.80202324G>TCA100000413PRDM8c.862G>T (p.Gly288Cys)
c.865G>T (p.Gly289Cys)
c.1705G>T (p.Gly569Cys)
c.1702G>T (p.Gly568Cys)
c.1564G>T (p.Gly522Cys)
c.1417G>T (p.Gly473Cys)
c.1279G>T (p.Gly427Cys)
c.1258G>T (p.Gly420Cys)
c.1414G>T (p.Gly472Cys)
c.1501G>T (p.Gly501Cys)
 dbSNP
4g.80202324_80202327delinsGGCACA1471292848PRDM8c.862_865delinsGGCA (p.Gly288=)
c.865_868delinsGGCA (p.Gly289=)
c.1705_1708delinsGGCA (p.Gly569=)
c.1702_1705delinsGGCA (p.Gly568=)
c.1564_1567delinsGGCA (p.Gly522=)
c.1417_1420delinsGGCA (p.Gly473=)
c.1279_1282delinsGGCA (p.Gly427=)
c.1258_1261delinsGGCA (p.Gly420=)
c.1414_1417delinsGGCA (p.Gly472=)
c.1501_1504delinsGGCA (p.Gly501=)
4g.80202325G>ACA357395456PRDM8c.863G>A (p.Gly288Asp)
c.866G>A (p.Gly289Asp)
c.1706G>A (p.Gly569Asp)
c.1703G>A (p.Gly568Asp)
c.1565G>A (p.Gly522Asp)
c.1418G>A (p.Gly473Asp)
c.1280G>A (p.Gly427Asp)
c.1259G>A (p.Gly420Asp)
c.1415G>A (p.Gly472Asp)
c.1502G>A (p.Gly501Asp)
 dbSNP gnomAD v2
4g.80202325G>CCA357395457PRDM8c.863G>C (p.Gly288Ala)
c.866G>C (p.Gly289Ala)
c.1706G>C (p.Gly569Ala)
c.1703G>C (p.Gly568Ala)
c.1565G>C (p.Gly522Ala)
c.1418G>C (p.Gly473Ala)
c.1280G>C (p.Gly427Ala)
c.1259G>C (p.Gly420Ala)
c.1415G>C (p.Gly472Ala)
c.1502G>C (p.Gly501Ala)
4g.80202325G=CA1471292856PRDM8c.863G= (p.Gly288=)
c.866G= (p.Gly289=)
c.1706G= (p.Gly569=)
c.1703G= (p.Gly568=)
c.1565G= (p.Gly522=)
c.1418G= (p.Gly473=)
c.1280G= (p.Gly427=)
c.1259G= (p.Gly420=)
c.1415G= (p.Gly472=)
c.1502G= (p.Gly501=)
4g.80202325G>TCA357395458PRDM8c.863G>T (p.Gly288Val)
c.866G>T (p.Gly289Val)
c.1706G>T (p.Gly569Val)
c.1703G>T (p.Gly568Val)
c.1565G>T (p.Gly522Val)
c.1418G>T (p.Gly473Val)
c.1280G>T (p.Gly427Val)
c.1259G>T (p.Gly420Val)
c.1415G>T (p.Gly472Val)
c.1502G>T (p.Gly501Val)
4g.80202327_80202329dupCA2830593779PRDM8c.865_867dup (p.Ser289_Gly290insSer)
c.868_870dup (p.Ser290_Gly291insSer)
c.1708_1710dup (p.Ser570_Gly571insSer)
c.1705_1707dup (p.Ser569_Gly570insSer)
c.1567_1569dup (p.Ser523_Gly524insSer)
c.1420_1422dup (p.Ser474_Gly475insSer)
c.1282_1284dup (p.Ser428_Gly429insSer)
c.1261_1263dup (p.Ser421_Gly422insSer)
c.1417_1419dup (p.Ser473_Gly474insSer)
c.1504_1506dup (p.Ser502_Gly503insSer)
4g.80202327_80202329delCA2982342PRDM8c.865_867del (p.Ser289del)
c.868_870del (p.Ser290del)
c.1708_1710del (p.Ser570del)
c.1705_1707del (p.Ser569del)
c.1567_1569del (p.Ser523del)
c.1420_1422del (p.Ser474del)
c.1282_1284del (p.Ser428del)
c.1261_1263del (p.Ser421del)
c.1417_1419del (p.Ser473del)
c.1504_1506del (p.Ser502del)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202326C>ACA440227214PRDM8c.864C>A (p.Gly288=)
c.867C>A (p.Gly289=)
c.1707C>A (p.Gly569=)
c.1704C>A (p.Gly568=)
c.1566C>A (p.Gly522=)
c.1419C>A (p.Gly473=)
c.1281C>A (p.Gly427=)
c.1260C>A (p.Gly420=)
c.1416C>A (p.Gly472=)
c.1503C>A (p.Gly501=)
4g.80202326C>GCA440227218PRDM8c.864C>G (p.Gly288=)
c.867C>G (p.Gly289=)
c.1707C>G (p.Gly569=)
c.1704C>G (p.Gly568=)
c.1566C>G (p.Gly522=)
c.1419C>G (p.Gly473=)
c.1281C>G (p.Gly427=)
c.1260C>G (p.Gly420=)
c.1416C>G (p.Gly472=)
c.1503C>G (p.Gly501=)
4g.80202326C>TCA440227220PRDM8c.864C>T (p.Gly288=)
c.867C>T (p.Gly289=)
c.1707C>T (p.Gly569=)
c.1704C>T (p.Gly568=)
c.1566C>T (p.Gly522=)
c.1419C>T (p.Gly473=)
c.1281C>T (p.Gly427=)
c.1260C>T (p.Gly420=)
c.1416C>T (p.Gly472=)
c.1503C>T (p.Gly501=)
 gnomAD v4
4g.80202327A=CA1471292869PRDM8c.865A= (p.Ser289=)
c.868A= (p.Ser290=)
c.1708A= (p.Ser570=)
c.1705A= (p.Ser569=)
c.1567A= (p.Ser523=)
c.1420A= (p.Ser474=)
c.1282A= (p.Ser428=)
c.1261A= (p.Ser421=)
c.1417A= (p.Ser473=)
c.1504A= (p.Ser502=)
4g.80202327A>CCA357395460PRDM8c.865A>C (p.Ser289Arg)
c.868A>C (p.Ser290Arg)
c.1708A>C (p.Ser570Arg)
c.1705A>C (p.Ser569Arg)
c.1567A>C (p.Ser523Arg)
c.1420A>C (p.Ser474Arg)
c.1282A>C (p.Ser428Arg)
c.1261A>C (p.Ser421Arg)
c.1417A>C (p.Ser473Arg)
c.1504A>C (p.Ser502Arg)
4g.80202327A>GCA2982344PRDM8c.865A>G (p.Ser289Gly)
c.868A>G (p.Ser290Gly)
c.1708A>G (p.Ser570Gly)
c.1705A>G (p.Ser569Gly)
c.1567A>G (p.Ser523Gly)
c.1420A>G (p.Ser474Gly)
c.1282A>G (p.Ser428Gly)
c.1261A>G (p.Ser421Gly)
c.1417A>G (p.Ser473Gly)
c.1504A>G (p.Ser502Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202327A>TCA357395462PRDM8c.865A>T (p.Ser289Cys)
c.868A>T (p.Ser290Cys)
c.1708A>T (p.Ser570Cys)
c.1705A>T (p.Ser569Cys)
c.1567A>T (p.Ser523Cys)
c.1420A>T (p.Ser474Cys)
c.1282A>T (p.Ser428Cys)
c.1261A>T (p.Ser421Cys)
c.1417A>T (p.Ser473Cys)
c.1504A>T (p.Ser502Cys)
4g.80202327_80202336delinsAGCGGCGGCGCA1471292863PRDM8c.865_874delinsAGCGGCGGCG (p.Ser289=)
c.868_877delinsAGCGGCGGCG (p.Ser290=)
c.1708_1717delinsAGCGGCGGCG (p.Ser570=)
c.1705_1714delinsAGCGGCGGCG (p.Ser569=)
c.1567_1576delinsAGCGGCGGCG (p.Ser523=)
c.1420_1429delinsAGCGGCGGCG (p.Ser474=)
c.1282_1291delinsAGCGGCGGCG (p.Ser428=)
c.1261_1270delinsAGCGGCGGCG (p.Ser421=)
c.1417_1426delinsAGCGGCGGCG (p.Ser473=)
c.1504_1513delinsAGCGGCGGCG (p.Ser502=)
4g.80202328G>ACA357395473PRDM8c.866G>A (p.Ser289Asn)
c.869G>A (p.Ser290Asn)
c.1709G>A (p.Ser570Asn)
c.1706G>A (p.Ser569Asn)
c.1568G>A (p.Ser523Asn)
c.1421G>A (p.Ser474Asn)
c.1283G>A (p.Ser428Asn)
c.1262G>A (p.Ser421Asn)
c.1418G>A (p.Ser473Asn)
c.1505G>A (p.Ser502Asn)
4g.80202328G>CCA357395471PRDM8c.866G>C (p.Ser289Thr)
c.869G>C (p.Ser290Thr)
c.1709G>C (p.Ser570Thr)
c.1706G>C (p.Ser569Thr)
c.1568G>C (p.Ser523Thr)
c.1421G>C (p.Ser474Thr)
c.1283G>C (p.Ser428Thr)
c.1262G>C (p.Ser421Thr)
c.1418G>C (p.Ser473Thr)
c.1505G>C (p.Ser502Thr)
4g.80202328G>TCA357395470PRDM8c.866G>T (p.Ser289Ile)
c.869G>T (p.Ser290Ile)
c.1709G>T (p.Ser570Ile)
c.1706G>T (p.Ser569Ile)
c.1568G>T (p.Ser523Ile)
c.1421G>T (p.Ser474Ile)
c.1283G>T (p.Ser428Ile)
c.1262G>T (p.Ser421Ile)
c.1418G>T (p.Ser473Ile)
c.1505G>T (p.Ser502Ile)
4g.80202342_80202344dupCA2982347PRDM8c.880_882dup (p.Gly294_His295insGly)
c.883_885dup (p.Gly295_His296insGly)
c.1723_1725dup (p.Gly575_His576insGly)
c.1720_1722dup (p.Gly574_His575insGly)
c.1582_1584dup (p.Gly528_His529insGly)
c.1435_1437dup (p.Gly479_His480insGly)
c.1297_1299dup (p.Gly433_His434insGly)
c.1276_1278dup (p.Gly426_His427insGly)
c.1432_1434dup (p.Gly478_His479insGly)
c.1519_1521dup (p.Gly507_His508insGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202339_80202344dupCA2982345PRDM8c.877_882dup (p.Gly294_His295insGlyGly)
c.880_885dup (p.Gly295_His296insGlyGly)
c.1720_1725dup (p.Gly575_His576insGlyGly)
c.1717_1722dup (p.Gly574_His575insGlyGly)
c.1579_1584dup (p.Gly528_His529insGlyGly)
c.1432_1437dup (p.Gly479_His480insGlyGly)
c.1294_1299dup (p.Gly433_His434insGlyGly)
c.1273_1278dup (p.Gly426_His427insGlyGly)
c.1429_1434dup (p.Gly478_His479insGlyGly)
c.1516_1521dup (p.Gly507_His508insGlyGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202336_80202344dupCA916082647PRDM8c.874_882dup (p.Gly294_His295insGlyGlyGly)
c.877_885dup (p.Gly295_His296insGlyGlyGly)
c.1717_1725dup (p.Gly575_His576insGlyGlyGly)
c.1714_1722dup (p.Gly574_His575insGlyGlyGly)
c.1576_1584dup (p.Gly528_His529insGlyGlyGly)
c.1429_1437dup (p.Gly479_His480insGlyGlyGly)
c.1291_1299dup (p.Gly433_His434insGlyGlyGly)
c.1270_1278dup (p.Gly426_His427insGlyGlyGly)
c.1426_1434dup (p.Gly478_His479insGlyGlyGly)
c.1513_1521dup (p.Gly507_His508insGlyGlyGly)
 ClinVar dbSNP gnomAD v4
4g.80202342_80202344delCA2982343PRDM8c.880_882del (p.Gly294del)
c.883_885del (p.Gly295del)
c.1723_1725del (p.Gly575del)
c.1720_1722del (p.Gly574del)
c.1582_1584del (p.Gly528del)
c.1435_1437del (p.Gly479del)
c.1297_1299del (p.Gly433del)
c.1276_1278del (p.Gly426del)
c.1432_1434del (p.Gly478del)
c.1519_1521del (p.Gly507del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202339_80202344delCA553082753PRDM8c.877_882del (p.Gly293_Gly294del)
c.880_885del (p.Gly294_Gly295del)
c.1720_1725del (p.Gly574_Gly575del)
c.1717_1722del (p.Gly573_Gly574del)
c.1579_1584del (p.Gly527_Gly528del)
c.1432_1437del (p.Gly478_Gly479del)
c.1294_1299del (p.Gly432_Gly433del)
c.1273_1278del (p.Gly425_Gly426del)
c.1429_1434del (p.Gly477_Gly478del)
c.1516_1521del (p.Gly506_Gly507del)
 dbSNP gnomAD v2 gnomAD v4
4g.80202336_80202344delCA2982346PRDM8c.874_882del (p.Gly292_Gly294del)
c.877_885del (p.Gly293_Gly295del)
c.1717_1725del (p.Gly573_Gly575del)
c.1714_1722del (p.Gly572_Gly574del)
c.1576_1584del (p.Gly526_Gly528del)
c.1429_1437del (p.Gly477_Gly479del)
c.1291_1299del (p.Gly431_Gly433del)
c.1270_1278del (p.Gly424_Gly426del)
c.1426_1434del (p.Gly476_Gly478del)
c.1513_1521del (p.Gly505_Gly507del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202329C>ACA357395476PRDM8c.867C>A (p.Ser289Arg)
c.870C>A (p.Ser290Arg)
c.1710C>A (p.Ser570Arg)
c.1707C>A (p.Ser569Arg)
c.1569C>A (p.Ser523Arg)
c.1422C>A (p.Ser474Arg)
c.1284C>A (p.Ser428Arg)
c.1263C>A (p.Ser421Arg)
c.1419C>A (p.Ser473Arg)
c.1506C>A (p.Ser502Arg)
4g.80202329C=CA1471292888PRDM8c.867C= (p.Ser289=)
c.870C= (p.Ser290=)
c.1710C= (p.Ser570=)
c.1707C= (p.Ser569=)
c.1569C= (p.Ser523=)
c.1422C= (p.Ser474=)
c.1284C= (p.Ser428=)
c.1263C= (p.Ser421=)
c.1419C= (p.Ser473=)
c.1506C= (p.Ser502=)
4g.80202329C>GCA100000448PRDM8c.867C>G (p.Ser289Arg)
c.870C>G (p.Ser290Arg)
c.1710C>G (p.Ser570Arg)
c.1707C>G (p.Ser569Arg)
c.1569C>G (p.Ser523Arg)
c.1422C>G (p.Ser474Arg)
c.1284C>G (p.Ser428Arg)
c.1263C>G (p.Ser421Arg)
c.1419C>G (p.Ser473Arg)
c.1506C>G (p.Ser502Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.80202329C>TCA2982348PRDM8c.867C>T (p.Ser289=)
c.870C>T (p.Ser290=)
c.1710C>T (p.Ser570=)
c.1707C>T (p.Ser569=)
c.1569C>T (p.Ser523=)
c.1422C>T (p.Ser474=)
c.1284C>T (p.Ser428=)
c.1263C>T (p.Ser421=)
c.1419C>T (p.Ser473=)
c.1506C>T (p.Ser502=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202330G>ACA2982349PRDM8c.868G>A (p.Gly290Ser)
c.871G>A (p.Gly291Ser)
c.1711G>A (p.Gly571Ser)
c.1708G>A (p.Gly570Ser)
c.1570G>A (p.Gly524Ser)
c.1423G>A (p.Gly475Ser)
c.1285G>A (p.Gly429Ser)
c.1264G>A (p.Gly422Ser)
c.1420G>A (p.Gly474Ser)
c.1507G>A (p.Gly503Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202330G>CCA357395480PRDM8c.868G>C (p.Gly290Arg)
c.871G>C (p.Gly291Arg)
c.1711G>C (p.Gly571Arg)
c.1708G>C (p.Gly570Arg)
c.1570G>C (p.Gly524Arg)
c.1423G>C (p.Gly475Arg)
c.1285G>C (p.Gly429Arg)
c.1264G>C (p.Gly422Arg)
c.1420G>C (p.Gly474Arg)
c.1507G>C (p.Gly503Arg)
4g.80202330G=CA1471292895PRDM8c.868G= (p.Gly290=)
c.871G= (p.Gly291=)
c.1711G= (p.Gly571=)
c.1708G= (p.Gly570=)
c.1570G= (p.Gly524=)
c.1423G= (p.Gly475=)
c.1285G= (p.Gly429=)
c.1264G= (p.Gly422=)
c.1420G= (p.Gly474=)
c.1507G= (p.Gly503=)
4g.80202330G>TCA357395482PRDM8c.868G>T (p.Gly290Cys)
c.871G>T (p.Gly291Cys)
c.1711G>T (p.Gly571Cys)
c.1708G>T (p.Gly570Cys)
c.1570G>T (p.Gly524Cys)
c.1423G>T (p.Gly475Cys)
c.1285G>T (p.Gly429Cys)
c.1264G>T (p.Gly422Cys)
c.1420G>T (p.Gly474Cys)
c.1507G>T (p.Gly503Cys)
4g.80202331_80202332insGGGCA553082754PRDM8c.869_870insGGG (p.Gly290_Gly291insGly)
c.872_873insGGG (p.Gly291_Gly292insGly)
c.1712_1713insGGG (p.Gly571_Gly572insGly)
c.1709_1710insGGG (p.Gly570_Gly571insGly)
c.1571_1572insGGG (p.Gly524_Gly525insGly)
c.1424_1425insGGG (p.Gly475_Gly476insGly)
c.1286_1287insGGG (p.Gly429_Gly430insGly)
c.1265_1266insGGG (p.Gly422_Gly423insGly)
c.1421_1422insGGG (p.Gly474_Gly475insGly)
c.1508_1509insGGG (p.Gly503_Gly504insGly)
 dbSNP gnomAD v2 gnomAD v4
4g.80202331G>ACA357395485PRDM8c.869G>A (p.Gly290Asp)
c.872G>A (p.Gly291Asp)
c.1712G>A (p.Gly571Asp)
c.1709G>A (p.Gly570Asp)
c.1571G>A (p.Gly524Asp)
c.1424G>A (p.Gly475Asp)
c.1286G>A (p.Gly429Asp)
c.1265G>A (p.Gly422Asp)
c.1421G>A (p.Gly474Asp)
c.1508G>A (p.Gly503Asp)
 gnomAD v4
4g.80202331G>CCA357395486PRDM8c.869G>C (p.Gly290Ala)
c.872G>C (p.Gly291Ala)
c.1712G>C (p.Gly571Ala)
c.1709G>C (p.Gly570Ala)
c.1571G>C (p.Gly524Ala)
c.1424G>C (p.Gly475Ala)
c.1286G>C (p.Gly429Ala)
c.1265G>C (p.Gly422Ala)
c.1421G>C (p.Gly474Ala)
c.1508G>C (p.Gly503Ala)
4g.80202331G>TCA357395484PRDM8c.869G>T (p.Gly290Val)
c.872G>T (p.Gly291Val)
c.1712G>T (p.Gly571Val)
c.1709G>T (p.Gly570Val)
c.1571G>T (p.Gly524Val)
c.1424G>T (p.Gly475Val)
c.1286G>T (p.Gly429Val)
c.1265G>T (p.Gly422Val)
c.1421G>T (p.Gly474Val)
c.1508G>T (p.Gly503Val)
4g.80202332C>ACA2982350PRDM8c.870C>A (p.Gly290=)
c.873C>A (p.Gly291=)
c.1713C>A (p.Gly571=)
c.1710C>A (p.Gly570=)
c.1572C>A (p.Gly524=)
c.1425C>A (p.Gly475=)
c.1287C>A (p.Gly429=)
c.1266C>A (p.Gly422=)
c.1422C>A (p.Gly474=)
c.1509C>A (p.Gly503=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202332C=CA1471292898PRDM8c.870C= (p.Gly290=)
c.873C= (p.Gly291=)
c.1713C= (p.Gly571=)
c.1710C= (p.Gly570=)
c.1572C= (p.Gly524=)
c.1425C= (p.Gly475=)
c.1287C= (p.Gly429=)
c.1266C= (p.Gly422=)
c.1422C= (p.Gly474=)
c.1509C= (p.Gly503=)
4g.80202332C>GCA440227263PRDM8c.870C>G (p.Gly290=)
c.873C>G (p.Gly291=)
c.1713C>G (p.Gly571=)
c.1710C>G (p.Gly570=)
c.1572C>G (p.Gly524=)
c.1425C>G (p.Gly475=)
c.1287C>G (p.Gly429=)
c.1266C>G (p.Gly422=)
c.1422C>G (p.Gly474=)
c.1509C>G (p.Gly503=)
4g.80202332C>TCA440227258PRDM8c.870C>T (p.Gly290=)
c.873C>T (p.Gly291=)
c.1713C>T (p.Gly571=)
c.1710C>T (p.Gly570=)
c.1572C>T (p.Gly524=)
c.1425C>T (p.Gly475=)
c.1287C>T (p.Gly429=)
c.1266C>T (p.Gly422=)
c.1422C>T (p.Gly474=)
c.1509C>T (p.Gly503=)
 COSMIC
4g.80202333G>ACA357395493PRDM8c.871G>A (p.Gly291Ser)
c.874G>A (p.Gly292Ser)
c.1714G>A (p.Gly572Ser)
c.1711G>A (p.Gly571Ser)
c.1573G>A (p.Gly525Ser)
c.1426G>A (p.Gly476Ser)
c.1288G>A (p.Gly430Ser)
c.1267G>A (p.Gly423Ser)
c.1423G>A (p.Gly475Ser)
c.1510G>A (p.Gly504Ser)
4g.80202333G>CCA357395490PRDM8c.871G>C (p.Gly291Arg)
c.874G>C (p.Gly292Arg)
c.1714G>C (p.Gly572Arg)
c.1711G>C (p.Gly571Arg)
c.1573G>C (p.Gly525Arg)
c.1426G>C (p.Gly476Arg)
c.1288G>C (p.Gly430Arg)
c.1267G>C (p.Gly423Arg)
c.1423G>C (p.Gly475Arg)
c.1510G>C (p.Gly504Arg)
4g.80202333G>TCA357395491PRDM8c.871G>T (p.Gly291Cys)
c.874G>T (p.Gly292Cys)
c.1714G>T (p.Gly572Cys)
c.1711G>T (p.Gly571Cys)
c.1573G>T (p.Gly525Cys)
c.1426G>T (p.Gly476Cys)
c.1288G>T (p.Gly430Cys)
c.1267G>T (p.Gly423Cys)
c.1423G>T (p.Gly475Cys)
c.1510G>T (p.Gly504Cys)
4g.80202341_80202436dupCA2671177874PRDM8c.879_974dup (p.Gly325_Gly326insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.882_977dup (p.Gly326_Gly327insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1722_1817dup (p.Gly606_Gly607insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1719_1814dup (p.Gly605_Gly606insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1581_1676dup (p.Gly559_Gly560insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1434_1529dup (p.Gly510_Gly511insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1296_1391dup (p.Gly464_Gly465insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1275_1370dup (p.Gly457_Gly458insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1431_1526dup (p.Gly509_Gly510insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1518_1613dup (p.Gly538_Gly539insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
 gnomAD v4
4g.80202334G>ACA357395494PRDM8c.872G>A (p.Gly291Asp)
c.875G>A (p.Gly292Asp)
c.1715G>A (p.Gly572Asp)
c.1712G>A (p.Gly571Asp)
c.1574G>A (p.Gly525Asp)
c.1427G>A (p.Gly476Asp)
c.1289G>A (p.Gly430Asp)
c.1268G>A (p.Gly423Asp)
c.1424G>A (p.Gly475Asp)
c.1511G>A (p.Gly504Asp)
4g.80202334G>CCA357395496PRDM8c.872G>C (p.Gly291Ala)
c.875G>C (p.Gly292Ala)
c.1715G>C (p.Gly572Ala)
c.1712G>C (p.Gly571Ala)
c.1574G>C (p.Gly525Ala)
c.1427G>C (p.Gly476Ala)
c.1289G>C (p.Gly430Ala)
c.1268G>C (p.Gly423Ala)
c.1424G>C (p.Gly475Ala)
c.1511G>C (p.Gly504Ala)
 gnomAD v4
4g.80202334G>TCA357395498PRDM8c.872G>T (p.Gly291Val)
c.875G>T (p.Gly292Val)
c.1715G>T (p.Gly572Val)
c.1712G>T (p.Gly571Val)
c.1574G>T (p.Gly525Val)
c.1427G>T (p.Gly476Val)
c.1289G>T (p.Gly430Val)
c.1268G>T (p.Gly423Val)
c.1424G>T (p.Gly475Val)
c.1511G>T (p.Gly504Val)
4g.80202335C>ACA440227271PRDM8c.873C>A (p.Gly291=)
c.876C>A (p.Gly292=)
c.1716C>A (p.Gly572=)
c.1713C>A (p.Gly571=)
c.1575C>A (p.Gly525=)
c.1428C>A (p.Gly476=)
c.1290C>A (p.Gly430=)
c.1269C>A (p.Gly423=)
c.1425C>A (p.Gly475=)
c.1512C>A (p.Gly504=)
4g.80202335C>GCA440227275PRDM8c.873C>G (p.Gly291=)
c.876C>G (p.Gly292=)
c.1716C>G (p.Gly572=)
c.1713C>G (p.Gly571=)
c.1575C>G (p.Gly525=)
c.1428C>G (p.Gly476=)
c.1290C>G (p.Gly430=)
c.1269C>G (p.Gly423=)
c.1425C>G (p.Gly475=)
c.1512C>G (p.Gly504=)
 gnomAD v4
4g.80202335C>TCA440227276PRDM8c.873C>T (p.Gly291=)
c.876C>T (p.Gly292=)
c.1716C>T (p.Gly572=)
c.1713C>T (p.Gly571=)
c.1575C>T (p.Gly525=)
c.1428C>T (p.Gly476=)
c.1290C>T (p.Gly430=)
c.1269C>T (p.Gly423=)
c.1425C>T (p.Gly475=)
c.1512C>T (p.Gly504=)
 gnomAD v4
4g.80202336G>ACA357395500PRDM8c.874G>A (p.Gly292Ser)
c.877G>A (p.Gly293Ser)
c.1717G>A (p.Gly573Ser)
c.1714G>A (p.Gly572Ser)
c.1576G>A (p.Gly526Ser)
c.1429G>A (p.Gly477Ser)
c.1291G>A (p.Gly431Ser)
c.1270G>A (p.Gly424Ser)
c.1426G>A (p.Gly476Ser)
c.1513G>A (p.Gly505Ser)
 gnomAD v4
4g.80202336G>CCA357395501PRDM8c.874G>C (p.Gly292Arg)
c.877G>C (p.Gly293Arg)
c.1717G>C (p.Gly573Arg)
c.1714G>C (p.Gly572Arg)
c.1576G>C (p.Gly526Arg)
c.1429G>C (p.Gly477Arg)
c.1291G>C (p.Gly431Arg)
c.1270G>C (p.Gly424Arg)
c.1426G>C (p.Gly476Arg)
c.1513G>C (p.Gly505Arg)
4g.80202336G>TCA357395502PRDM8c.874G>T (p.Gly292Cys)
c.877G>T (p.Gly293Cys)
c.1717G>T (p.Gly573Cys)
c.1714G>T (p.Gly572Cys)
c.1576G>T (p.Gly526Cys)
c.1429G>T (p.Gly477Cys)
c.1291G>T (p.Gly431Cys)
c.1270G>T (p.Gly424Cys)
c.1426G>T (p.Gly476Cys)
c.1513G>T (p.Gly505Cys)
4g.80202337G>ACA357395503PRDM8c.875G>A (p.Gly292Asp)
c.878G>A (p.Gly293Asp)
c.1718G>A (p.Gly573Asp)
c.1715G>A (p.Gly572Asp)
c.1577G>A (p.Gly526Asp)
c.1430G>A (p.Gly477Asp)
c.1292G>A (p.Gly431Asp)
c.1271G>A (p.Gly424Asp)
c.1427G>A (p.Gly476Asp)
c.1514G>A (p.Gly505Asp)
4g.80202337G>CCA357395504PRDM8c.875G>C (p.Gly292Ala)
c.878G>C (p.Gly293Ala)
c.1718G>C (p.Gly573Ala)
c.1715G>C (p.Gly572Ala)
c.1577G>C (p.Gly526Ala)
c.1430G>C (p.Gly477Ala)
c.1292G>C (p.Gly431Ala)
c.1271G>C (p.Gly424Ala)
c.1427G>C (p.Gly476Ala)
c.1514G>C (p.Gly505Ala)
4g.80202337G>TCA357395505PRDM8c.875G>T (p.Gly292Val)
c.878G>T (p.Gly293Val)
c.1718G>T (p.Gly573Val)
c.1715G>T (p.Gly572Val)
c.1577G>T (p.Gly526Val)
c.1430G>T (p.Gly477Val)
c.1292G>T (p.Gly431Val)
c.1271G>T (p.Gly424Val)
c.1427G>T (p.Gly476Val)
c.1514G>T (p.Gly505Val)
4g.80202338C>ACA440227290PRDM8c.876C>A (p.Gly292=)
c.879C>A (p.Gly293=)
c.1719C>A (p.Gly573=)
c.1716C>A (p.Gly572=)
c.1578C>A (p.Gly526=)
c.1431C>A (p.Gly477=)
c.1293C>A (p.Gly431=)
c.1272C>A (p.Gly424=)
c.1428C>A (p.Gly476=)
c.1515C>A (p.Gly505=)
 dbSNP gnomAD v3 gnomAD v4
4g.80202338C=CA1471292901PRDM8c.876C= (p.Gly292=)
c.879C= (p.Gly293=)
c.1719C= (p.Gly573=)
c.1716C= (p.Gly572=)
c.1578C= (p.Gly526=)
c.1431C= (p.Gly477=)
c.1293C= (p.Gly431=)
c.1272C= (p.Gly424=)
c.1428C= (p.Gly476=)
c.1515C= (p.Gly505=)
4g.80202338C>GCA440227293PRDM8c.876C>G (p.Gly292=)
c.879C>G (p.Gly293=)
c.1719C>G (p.Gly573=)
c.1716C>G (p.Gly572=)
c.1578C>G (p.Gly526=)
c.1431C>G (p.Gly477=)
c.1293C>G (p.Gly431=)
c.1272C>G (p.Gly424=)
c.1428C>G (p.Gly476=)
c.1515C>G (p.Gly505=)
4g.80202338C>TCA440227294PRDM8c.876C>T (p.Gly292=)
c.879C>T (p.Gly293=)
c.1719C>T (p.Gly573=)
c.1716C>T (p.Gly572=)
c.1578C>T (p.Gly526=)
c.1431C>T (p.Gly477=)
c.1293C>T (p.Gly431=)
c.1272C>T (p.Gly424=)
c.1428C>T (p.Gly476=)
c.1515C>T (p.Gly505=)
4g.80202339G>ACA357395510PRDM8c.877G>A (p.Gly293Ser)
c.880G>A (p.Gly294Ser)
c.1720G>A (p.Gly574Ser)
c.1717G>A (p.Gly573Ser)
c.1579G>A (p.Gly527Ser)
c.1432G>A (p.Gly478Ser)
c.1294G>A (p.Gly432Ser)
c.1273G>A (p.Gly425Ser)
c.1429G>A (p.Gly477Ser)
c.1516G>A (p.Gly506Ser)
 ClinVar dbSNP gnomAD v4
4g.80202339G>CCA357395509PRDM8c.877G>C (p.Gly293Arg)
c.880G>C (p.Gly294Arg)
c.1720G>C (p.Gly574Arg)
c.1717G>C (p.Gly573Arg)
c.1579G>C (p.Gly527Arg)
c.1432G>C (p.Gly478Arg)
c.1294G>C (p.Gly432Arg)
c.1273G>C (p.Gly425Arg)
c.1429G>C (p.Gly477Arg)
c.1516G>C (p.Gly506Arg)
4g.80202339G=CA1471292903PRDM8c.877G= (p.Gly293=)
c.880G= (p.Gly294=)
c.1720G= (p.Gly574=)
c.1717G= (p.Gly573=)
c.1579G= (p.Gly527=)
c.1432G= (p.Gly478=)
c.1294G= (p.Gly432=)
c.1273G= (p.Gly425=)
c.1429G= (p.Gly477=)
c.1516G= (p.Gly506=)
4g.80202339G>TCA357395507PRDM8c.877G>T (p.Gly293Cys)
c.880G>T (p.Gly294Cys)
c.1720G>T (p.Gly574Cys)
c.1717G>T (p.Gly573Cys)
c.1579G>T (p.Gly527Cys)
c.1432G>T (p.Gly478Cys)
c.1294G>T (p.Gly432Cys)
c.1273G>T (p.Gly425Cys)
c.1429G>T (p.Gly477Cys)
c.1516G>T (p.Gly506Cys)
4g.80202340G>ACA357395512PRDM8c.878G>A (p.Gly293Asp)
c.881G>A (p.Gly294Asp)
c.1721G>A (p.Gly574Asp)
c.1718G>A (p.Gly573Asp)
c.1580G>A (p.Gly527Asp)
c.1433G>A (p.Gly478Asp)
c.1295G>A (p.Gly432Asp)
c.1274G>A (p.Gly425Asp)
c.1430G>A (p.Gly477Asp)
c.1517G>A (p.Gly506Asp)
4g.80202340G>CCA357395514PRDM8c.878G>C (p.Gly293Ala)
c.881G>C (p.Gly294Ala)
c.1721G>C (p.Gly574Ala)
c.1718G>C (p.Gly573Ala)
c.1580G>C (p.Gly527Ala)
c.1433G>C (p.Gly478Ala)
c.1295G>C (p.Gly432Ala)
c.1274G>C (p.Gly425Ala)
c.1430G>C (p.Gly477Ala)
c.1517G>C (p.Gly506Ala)
4g.80202340G>TCA357395516PRDM8c.878G>T (p.Gly293Val)
c.881G>T (p.Gly294Val)
c.1721G>T (p.Gly574Val)
c.1718G>T (p.Gly573Val)
c.1580G>T (p.Gly527Val)
c.1433G>T (p.Gly478Val)
c.1295G>T (p.Gly432Val)
c.1274G>T (p.Gly425Val)
c.1430G>T (p.Gly477Val)
c.1517G>T (p.Gly506Val)
4g.80202341C>ACA440227320PRDM8c.879C>A (p.Gly293=)
c.882C>A (p.Gly294=)
c.1722C>A (p.Gly574=)
c.1719C>A (p.Gly573=)
c.1581C>A (p.Gly527=)
c.1434C>A (p.Gly478=)
c.1296C>A (p.Gly432=)
c.1275C>A (p.Gly425=)
c.1431C>A (p.Gly477=)
c.1518C>A (p.Gly506=)
4g.80202341C>GCA440227319PRDM8c.879C>G (p.Gly293=)
c.882C>G (p.Gly294=)
c.1722C>G (p.Gly574=)
c.1719C>G (p.Gly573=)
c.1581C>G (p.Gly527=)
c.1434C>G (p.Gly478=)
c.1296C>G (p.Gly432=)
c.1275C>G (p.Gly425=)
c.1431C>G (p.Gly477=)
c.1518C>G (p.Gly506=)
4g.80202341C>TCA440227318PRDM8c.879C>T (p.Gly293=)
c.882C>T (p.Gly294=)
c.1722C>T (p.Gly574=)
c.1719C>T (p.Gly573=)
c.1581C>T (p.Gly527=)
c.1434C>T (p.Gly478=)
c.1296C>T (p.Gly432=)
c.1275C>T (p.Gly425=)
c.1431C>T (p.Gly477=)
c.1518C>T (p.Gly506=)
 gnomAD v4
4g.80202342G>ACA357395517PRDM8c.880G>A (p.Gly294Ser)
c.883G>A (p.Gly295Ser)
c.1723G>A (p.Gly575Ser)
c.1720G>A (p.Gly574Ser)
c.1582G>A (p.Gly528Ser)
c.1435G>A (p.Gly479Ser)
c.1297G>A (p.Gly433Ser)
c.1276G>A (p.Gly426Ser)
c.1432G>A (p.Gly478Ser)
c.1519G>A (p.Gly507Ser)
 dbSNP gnomAD v4
4g.80202342G>CCA357395518PRDM8c.880G>C (p.Gly294Arg)
c.883G>C (p.Gly295Arg)
c.1723G>C (p.Gly575Arg)
c.1720G>C (p.Gly574Arg)
c.1582G>C (p.Gly528Arg)
c.1435G>C (p.Gly479Arg)
c.1297G>C (p.Gly433Arg)
c.1276G>C (p.Gly426Arg)
c.1432G>C (p.Gly478Arg)
c.1519G>C (p.Gly507Arg)
4g.80202342G=CA1471292906PRDM8c.880G= (p.Gly294=)
c.883G= (p.Gly295=)
c.1723G= (p.Gly575=)
c.1720G= (p.Gly574=)
c.1582G= (p.Gly528=)
c.1435G= (p.Gly479=)
c.1297G= (p.Gly433=)
c.1276G= (p.Gly426=)
c.1432G= (p.Gly478=)
c.1519G= (p.Gly507=)
4g.80202342G>TCA357395520PRDM8c.880G>T (p.Gly294Cys)
c.883G>T (p.Gly295Cys)
c.1723G>T (p.Gly575Cys)
c.1720G>T (p.Gly574Cys)
c.1582G>T (p.Gly528Cys)
c.1435G>T (p.Gly479Cys)
c.1297G>T (p.Gly433Cys)
c.1276G>T (p.Gly426Cys)
c.1432G>T (p.Gly478Cys)
c.1519G>T (p.Gly507Cys)
 ClinVar dbSNP gnomAD v4
4g.80202342_80202343delCA2600864621PRDM8c.880_881del (p.Gly294ProfsTer?)
c.883_884del (p.Gly295ProfsTer?)
c.1723_1724del (p.Gly575ProfsTer?)
c.1720_1721del (p.Gly574ProfsTer?)
c.1582_1583del (p.Gly528ProfsTer?)
c.1435_1436del (p.Gly479ProfsTer?)
c.1297_1298del (p.Gly433ProfsTer?)
c.1276_1277del (p.Gly426ProfsTer?)
c.1432_1433del (p.Gly478ProfsTer?)
c.1519_1520del (p.Gly507ProfsTer?)
 gnomAD v3 gnomAD v4
4g.80202343delCA2505373713PRDM8c.881del (p.Gly294AlafsTer7)
c.884del (p.Gly295AlafsTer7)
c.1724del (p.Gly575AlafsTer7)
c.1721del (p.Gly574AlafsTer7)
c.1583del (p.Gly528AlafsTer7)
c.1436del (p.Gly479AlafsTer7)
c.1298del (p.Gly433AlafsTer7)
c.1277del (p.Gly426AlafsTer7)
c.1433del (p.Gly478AlafsTer7)
c.1520del (p.Gly507AlafsTer7)
 gnomAD v3 gnomAD v4
4g.80202343G>ACA357395522PRDM8c.881G>A (p.Gly294Asp)
c.884G>A (p.Gly295Asp)
c.1724G>A (p.Gly575Asp)
c.1721G>A (p.Gly574Asp)
c.1583G>A (p.Gly528Asp)
c.1436G>A (p.Gly479Asp)
c.1298G>A (p.Gly433Asp)
c.1277G>A (p.Gly426Asp)
c.1433G>A (p.Gly478Asp)
c.1520G>A (p.Gly507Asp)
 gnomAD v4
4g.80202343G>CCA357395523PRDM8c.881G>C (p.Gly294Ala)
c.884G>C (p.Gly295Ala)
c.1724G>C (p.Gly575Ala)
c.1721G>C (p.Gly574Ala)
c.1583G>C (p.Gly528Ala)
c.1436G>C (p.Gly479Ala)
c.1298G>C (p.Gly433Ala)
c.1277G>C (p.Gly426Ala)
c.1433G>C (p.Gly478Ala)
c.1520G>C (p.Gly507Ala)
 dbSNP gnomAD v4
4g.80202343G=CA1471292910PRDM8c.881G= (p.Gly294=)
c.884G= (p.Gly295=)
c.1724G= (p.Gly575=)
c.1721G= (p.Gly574=)
c.1583G= (p.Gly528=)
c.1436G= (p.Gly479=)
c.1298G= (p.Gly433=)
c.1277G= (p.Gly426=)
c.1433G= (p.Gly478=)
c.1520G= (p.Gly507=)
4g.80202343G>TCA357395525PRDM8c.881G>T (p.Gly294Val)
c.884G>T (p.Gly295Val)
c.1724G>T (p.Gly575Val)
c.1721G>T (p.Gly574Val)
c.1583G>T (p.Gly528Val)
c.1436G>T (p.Gly479Val)
c.1298G>T (p.Gly433Val)
c.1277G>T (p.Gly426Val)
c.1433G>T (p.Gly478Val)
c.1520G>T (p.Gly507Val)
 gnomAD v3 gnomAD v4
4g.80202343_80202345dupCA2578127010PRDM8c.881_883dup (p.Gly294_His295insArg)
c.884_886dup (p.Gly295_His296insArg)
c.1724_1726dup (p.Gly575_His576insArg)
c.1721_1723dup (p.Gly574_His575insArg)
c.1583_1585dup (p.Gly528_His529insArg)
c.1436_1438dup (p.Gly479_His480insArg)
c.1298_1300dup (p.Gly433_His434insArg)
c.1277_1279dup (p.Gly426_His427insArg)
c.1433_1435dup (p.Gly478_His479insArg)
c.1520_1522dup (p.Gly507_His508insArg)
4g.80202343_80202344insTCCTCA2600864623PRDM8c.881_882insTCCT (p.His295ProfsTer?)
c.884_885insTCCT (p.His296ProfsTer?)
c.1724_1725insTCCT (p.His576ProfsTer?)
c.1721_1722insTCCT (p.His575ProfsTer?)
c.1583_1584insTCCT (p.His529ProfsTer?)
c.1436_1437insTCCT (p.His480ProfsTer?)
c.1298_1299insTCCT (p.His434ProfsTer?)
c.1277_1278insTCCT (p.His427ProfsTer?)
c.1433_1434insTCCT (p.His479ProfsTer?)
c.1520_1521insTCCT (p.His508ProfsTer?)
 gnomAD v3 gnomAD v4
4g.80202344C>ACA440227336PRDM8c.882C>A (p.Gly294=)
c.885C>A (p.Gly295=)
c.1725C>A (p.Gly575=)
c.1722C>A (p.Gly574=)
c.1584C>A (p.Gly528=)
c.1437C>A (p.Gly479=)
c.1299C>A (p.Gly433=)
c.1278C>A (p.Gly426=)
c.1434C>A (p.Gly478=)
c.1521C>A (p.Gly507=)
4g.80202344C>GCA440227340PRDM8c.882C>G (p.Gly294=)
c.885C>G (p.Gly295=)
c.1725C>G (p.Gly575=)
c.1722C>G (p.Gly574=)
c.1584C>G (p.Gly528=)
c.1437C>G (p.Gly479=)
c.1299C>G (p.Gly433=)
c.1278C>G (p.Gly426=)
c.1434C>G (p.Gly478=)
c.1521C>G (p.Gly507=)
4g.80202344C>TCA440227342PRDM8c.882C>T (p.Gly294=)
c.885C>T (p.Gly295=)
c.1725C>T (p.Gly575=)
c.1722C>T (p.Gly574=)
c.1584C>T (p.Gly528=)
c.1437C>T (p.Gly479=)
c.1299C>T (p.Gly433=)
c.1278C>T (p.Gly426=)
c.1434C>T (p.Gly478=)
c.1521C>T (p.Gly507=)
4g.80202344_80202345insTCCTCCACGCCCGCGGCCGCGTCA1064586980PRDM8c.882_883insTCCTCCACGCCCGCGGCCGCGT (p.His295SerfsTer?)
c.885_886insTCCTCCACGCCCGCGGCCGCGT (p.His296SerfsTer?)
c.1725_1726insTCCTCCACGCCCGCGGCCGCGT (p.His576SerfsTer?)
c.1722_1723insTCCTCCACGCCCGCGGCCGCGT (p.His575SerfsTer?)
c.1584_1585insTCCTCCACGCCCGCGGCCGCGT (p.His529SerfsTer?)
c.1437_1438insTCCTCCACGCCCGCGGCCGCGT (p.His480SerfsTer?)
c.1299_1300insTCCTCCACGCCCGCGGCCGCGT (p.His434SerfsTer?)
c.1278_1279insTCCTCCACGCCCGCGGCCGCGT (p.His427SerfsTer?)
c.1434_1435insTCCTCCACGCCCGCGGCCGCGT (p.His479SerfsTer?)
c.1521_1522insTCCTCCACGCCCGCGGCCGCGT (p.His508SerfsTer?)
 gnomAD v3 gnomAD v4
4g.80202345C>ACA357395528PRDM8c.883C>A (p.His295Asn)
c.886C>A (p.His296Asn)
c.1726C>A (p.His576Asn)
c.1723C>A (p.His575Asn)
c.1585C>A (p.His529Asn)
c.1438C>A (p.His480Asn)
c.1300C>A (p.His434Asn)
c.1279C>A (p.His427Asn)
c.1435C>A (p.His479Asn)
c.1522C>A (p.His508Asn)
4g.80202345C>GCA357395529PRDM8c.883C>G (p.His295Asp)
c.886C>G (p.His296Asp)
c.1726C>G (p.His576Asp)
c.1723C>G (p.His575Asp)
c.1585C>G (p.His529Asp)
c.1438C>G (p.His480Asp)
c.1300C>G (p.His434Asp)
c.1279C>G (p.His427Asp)
c.1435C>G (p.His479Asp)
c.1522C>G (p.His508Asp)
4g.80202345C>TCA357395530PRDM8c.883C>T (p.His295Tyr)
c.886C>T (p.His296Tyr)
c.1726C>T (p.His576Tyr)
c.1723C>T (p.His575Tyr)
c.1585C>T (p.His529Tyr)
c.1438C>T (p.His480Tyr)
c.1300C>T (p.His434Tyr)
c.1279C>T (p.His427Tyr)
c.1435C>T (p.His479Tyr)
c.1522C>T (p.His508Tyr)
4g.80202346A=CA1471292920PRDM8c.884A= (p.His295=)
c.887A= (p.His296=)
c.1727A= (p.His576=)
c.1724A= (p.His575=)
c.1586A= (p.His529=)
c.1439A= (p.His480=)
c.1301A= (p.His434=)
c.1280A= (p.His427=)
c.1436A= (p.His479=)
c.1523A= (p.His508=)
4g.80202346A>CCA2982351PRDM8c.884A>C (p.His295Pro)
c.887A>C (p.His296Pro)
c.1727A>C (p.His576Pro)
c.1724A>C (p.His575Pro)
c.1586A>C (p.His529Pro)
c.1439A>C (p.His480Pro)
c.1301A>C (p.His434Pro)
c.1280A>C (p.His427Pro)
c.1436A>C (p.His479Pro)
c.1523A>C (p.His508Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202346A>GCA357395534PRDM8c.884A>G (p.His295Arg)
c.887A>G (p.His296Arg)
c.1727A>G (p.His576Arg)
c.1724A>G (p.His575Arg)
c.1586A>G (p.His529Arg)
c.1439A>G (p.His480Arg)
c.1301A>G (p.His434Arg)
c.1280A>G (p.His427Arg)
c.1436A>G (p.His479Arg)
c.1523A>G (p.His508Arg)
4g.80202346A>TCA357395531PRDM8c.884A>T (p.His295Leu)
c.887A>T (p.His296Leu)
c.1727A>T (p.His576Leu)
c.1724A>T (p.His575Leu)
c.1586A>T (p.His529Leu)
c.1439A>T (p.His480Leu)
c.1301A>T (p.His434Leu)
c.1280A>T (p.His427Leu)
c.1436A>T (p.His479Leu)
c.1523A>T (p.His508Leu)
4g.80202347C>ACA357395536PRDM8c.885C>A (p.His295Gln)
c.888C>A (p.His296Gln)
c.1728C>A (p.His576Gln)
c.1725C>A (p.His575Gln)
c.1587C>A (p.His529Gln)
c.1440C>A (p.His480Gln)
c.1302C>A (p.His434Gln)
c.1281C>A (p.His427Gln)
c.1437C>A (p.His479Gln)
c.1524C>A (p.His508Gln)
4g.80202347C=CA1471292929PRDM8c.885C= (p.His295=)
c.888C= (p.His296=)
c.1728C= (p.His576=)
c.1725C= (p.His575=)
c.1587C= (p.His529=)
c.1440C= (p.His480=)
c.1302C= (p.His434=)
c.1281C= (p.His427=)
c.1437C= (p.His479=)
c.1524C= (p.His508=)
4g.80202347C>GCA357395537PRDM8c.885C>G (p.His295Gln)
c.888C>G (p.His296Gln)
c.1728C>G (p.His576Gln)
c.1725C>G (p.His575Gln)
c.1587C>G (p.His529Gln)
c.1440C>G (p.His480Gln)
c.1302C>G (p.His434Gln)
c.1281C>G (p.His427Gln)
c.1437C>G (p.His479Gln)
c.1524C>G (p.His508Gln)
4g.80202347C>TCA100000462PRDM8c.885C>T (p.His295=)
c.888C>T (p.His296=)
c.1728C>T (p.His576=)
c.1725C>T (p.His575=)
c.1587C>T (p.His529=)
c.1440C>T (p.His480=)
c.1302C>T (p.His434=)
c.1281C>T (p.His427=)
c.1437C>T (p.His479=)
c.1524C>T (p.His508=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.80202348C>ACA357395539PRDM8c.886C>A (p.Gln296Lys)
c.889C>A (p.Gln297Lys)
c.1729C>A (p.Gln577Lys)
c.1726C>A (p.Gln576Lys)
c.1588C>A (p.Gln530Lys)
c.1441C>A (p.Gln481Lys)
c.1303C>A (p.Gln435Lys)
c.1282C>A (p.Gln428Lys)
c.1438C>A (p.Gln480Lys)
c.1525C>A (p.Gln509Lys)
 gnomAD v4
4g.80202348C>GCA357395541PRDM8c.886C>G (p.Gln296Glu)
c.889C>G (p.Gln297Glu)
c.1729C>G (p.Gln577Glu)
c.1726C>G (p.Gln576Glu)
c.1588C>G (p.Gln530Glu)
c.1441C>G (p.Gln481Glu)
c.1303C>G (p.Gln435Glu)
c.1282C>G (p.Gln428Glu)
c.1438C>G (p.Gln480Glu)
c.1525C>G (p.Gln509Glu)
4g.80202348C>TCA357395542PRDM8c.886C>T (p.Gln296Ter)
c.889C>T (p.Gln297Ter)
c.1729C>T (p.Gln577Ter)
c.1726C>T (p.Gln576Ter)
c.1588C>T (p.Gln530Ter)
c.1441C>T (p.Gln481Ter)
c.1303C>T (p.Gln435Ter)
c.1282C>T (p.Gln428Ter)
c.1438C>T (p.Gln480Ter)
c.1525C>T (p.Gln509Ter)
 ClinVar

Number of alleles fetched